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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-21801090-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21801090&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21801090,
"ref": "G",
"alt": "GC",
"effect": "frameshift_variant",
"transcript": "NM_020297.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "NM_020297.4",
"protein_id": "NP_064693.2",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261200.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020297.4"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "ENST00000261200.9",
"protein_id": "ENSP00000261200.4",
"transcript_support_level": 5,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020297.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261200.9"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "NM_001377273.1",
"protein_id": "NP_001364202.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377273.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "ENST00000879186.1",
"protein_id": "ENSP00000549245.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879186.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "ENST00000879187.1",
"protein_id": "ENSP00000549246.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879187.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "ENST00000879188.1",
"protein_id": "ENSP00000549247.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879188.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "ENST00000879190.1",
"protein_id": "ENSP00000549249.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879190.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "ENST00000879191.1",
"protein_id": "ENSP00000549250.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879191.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "ENST00000944975.1",
"protein_id": "ENSP00000615034.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944975.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4600dupG",
"hgvs_p": "p.Ala1534fs",
"transcript": "ENST00000944976.1",
"protein_id": "ENSP00000615035.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4600,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944976.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4564dupG",
"hgvs_p": "p.Ala1522fs",
"transcript": "ENST00000879185.1",
"protein_id": "ENSP00000549244.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1536,
"cds_start": 4564,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879185.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4564dupG",
"hgvs_p": "p.Ala1522fs",
"transcript": "ENST00000879189.1",
"protein_id": "ENSP00000549248.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1536,
"cds_start": 4564,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879189.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4564dupG",
"hgvs_p": "p.Ala1522fs",
"transcript": "ENST00000879192.1",
"protein_id": "ENSP00000549251.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1536,
"cds_start": 4564,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879192.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4561dupG",
"hgvs_p": "p.Ala1521fs",
"transcript": "ENST00000944977.1",
"protein_id": "ENSP00000615036.1",
"transcript_support_level": null,
"aa_start": 1521,
"aa_end": null,
"aa_length": 1535,
"cds_start": 4561,
"cds_end": null,
"cds_length": 4608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944977.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4552dupG",
"hgvs_p": "p.Ala1518fs",
"transcript": "ENST00000684084.1",
"protein_id": "ENSP00000507859.1",
"transcript_support_level": null,
"aa_start": 1518,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4552,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684084.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4513dupG",
"hgvs_p": "p.Ala1505fs",
"transcript": "ENST00000879193.1",
"protein_id": "ENSP00000549252.1",
"transcript_support_level": null,
"aa_start": 1505,
"aa_end": null,
"aa_length": 1519,
"cds_start": 4513,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879193.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4462dupG",
"hgvs_p": "p.Ala1488fs",
"transcript": "ENST00000944978.1",
"protein_id": "ENSP00000615037.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1502,
"cds_start": 4462,
"cds_end": null,
"cds_length": 4509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944978.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.3736dupG",
"hgvs_p": "p.Ala1246fs",
"transcript": "NM_001377274.1",
"protein_id": "NP_001364203.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3736,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377274.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "XM_005253288.5",
"protein_id": "XP_005253345.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253288.5"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs",
"transcript": "XM_011520545.4",
"protein_id": "XP_011518847.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520545.4"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4564dupG",
"hgvs_p": "p.Ala1522fs",
"transcript": "XM_005253289.5",
"protein_id": "XP_005253346.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1536,
"cds_start": 4564,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253289.5"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4462dupG",
"hgvs_p": "p.Ala1488fs",
"transcript": "XM_005253290.5",
"protein_id": "XP_005253347.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1502,
"cds_start": 4462,
"cds_end": null,
"cds_length": 4509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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},
{
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"strand": false,
"consequences": [
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],
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{
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},
{
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],
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},
{
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],
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"exon_count": 10,
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"feature": "ENST00000683695.1"
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{
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{
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"transcript": "ENST00000683105.1",
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"feature": "ENST00000683105.1"
},
{
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"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "KCNJ8-AS1",
"gene_hgnc_id": 58193,
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"transcript": "XR_007063241.1",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063241.1"
}
],
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.539,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020297.4",
"gene_symbol": "ABCC9",
"hgnc_id": 60,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.4603dupG",
"hgvs_p": "p.Ala1535fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007063241.1",
"gene_symbol": "KCNJ8-AS1",
"hgnc_id": 58193,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.632-26118dupC",
"hgvs_p": null
}
],
"clinvar_disease": "See cases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "See cases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}