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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: 12-4649133-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=4649133&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 4649133,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005002.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "NM_005002.5",
"protein_id": "NP_004993.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 377,
"cds_start": 7,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266544.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005002.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000266544.10",
"protein_id": "ENSP00000266544.5",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 377,
"cds_start": 7,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005002.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266544.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255639",
"gene_hgnc_id": null,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000648836.1",
"protein_id": "ENSP00000497305.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 567,
"cds_start": 7,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648836.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "n.17G>A",
"hgvs_p": null,
"transcript": "ENST00000396655.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000396655.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272921",
"gene_hgnc_id": null,
"hgvs_c": "n.*50-5159G>A",
"hgvs_p": null,
"transcript": "ENST00000536588.1",
"protein_id": "ENSP00000445121.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000536588.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000852780.1",
"protein_id": "ENSP00000522839.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 412,
"cds_start": 7,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852780.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000852779.1",
"protein_id": "ENSP00000522838.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 391,
"cds_start": 7,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852779.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000852781.1",
"protein_id": "ENSP00000522840.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 390,
"cds_start": 7,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852781.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000943616.1",
"protein_id": "ENSP00000613675.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 387,
"cds_start": 7,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943616.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000852778.1",
"protein_id": "ENSP00000522837.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 382,
"cds_start": 7,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852778.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000911896.1",
"protein_id": "ENSP00000581955.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 375,
"cds_start": 7,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911896.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000911897.1",
"protein_id": "ENSP00000581956.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 375,
"cds_start": 7,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911897.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000852775.1",
"protein_id": "ENSP00000522834.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 370,
"cds_start": 7,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852775.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000852776.1",
"protein_id": "ENSP00000522835.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 350,
"cds_start": 7,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852776.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000943615.1",
"protein_id": "ENSP00000613674.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 320,
"cds_start": 7,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943615.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000852777.1",
"protein_id": "ENSP00000522836.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 175,
"cds_start": 7,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852777.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "n.39G>A",
"hgvs_p": null,
"transcript": "ENST00000539573.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000539573.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "n.19G>A",
"hgvs_p": null,
"transcript": "ENST00000542369.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000542369.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA9",
"gene_hgnc_id": 7693,
"hgvs_c": "n.15G>A",
"hgvs_p": null,
"transcript": "ENST00000544679.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000544679.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.-633C>T",
"hgvs_p": null,
"transcript": "NM_001278309.2",
"protein_id": "NP_001265238.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": null,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228850.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278309.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.-633C>T",
"hgvs_p": null,
"transcript": "ENST00000228850.6",
"protein_id": "ENSP00000228850.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": null,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001278309.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228850.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP3",
"gene_hgnc_id": 373,
"hgvs_c": "c.-611C>T",
"hgvs_p": null,
"transcript": "NM_006422.4",
"protein_id": "NP_006413.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": null,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006422.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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{
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"verdict": "Likely_benign",
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{
"score": -4,
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"verdict": "Likely_benign",
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"effects": [
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{
"score": -4,
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"verdict": "Likely_benign",
"transcript": "ENST00000536588.1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.*50-5159G>A",
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},
{
"score": -4,
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"verdict": "Likely_benign",
"transcript": "NM_006422.4",
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"inheritance_mode": "Unknown",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}