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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: 6-45328769-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=45328769&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 45328769,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001024630.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Gln15Lys",
"transcript": "NM_001024630.4",
"protein_id": "NP_001019801.3",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 521,
"cds_start": 43,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647337.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024630.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Gln15Lys",
"transcript": "ENST00000647337.2",
"protein_id": "ENSP00000495497.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 521,
"cds_start": 43,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001024630.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647337.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.101+36432G>T",
"hgvs_p": null,
"transcript": "NM_003599.4",
"protein_id": "NP_003590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371459.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003599.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.101+36432G>T",
"hgvs_p": null,
"transcript": "ENST00000371459.6",
"protein_id": "ENSP00000360514.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003599.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371459.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-51-5802G>T",
"hgvs_p": null,
"transcript": "ENST00000371460.5",
"protein_id": "ENSP00000360515.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371460.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Gln15Lys",
"transcript": "ENST00000576263.5",
"protein_id": "ENSP00000458178.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 542,
"cds_start": 43,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576263.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Gln15Lys",
"transcript": "ENST00000371438.5",
"protein_id": "ENSP00000360493.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 521,
"cds_start": 43,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371438.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Gln15Lys",
"transcript": "NM_001015051.4",
"protein_id": "NP_001015051.3",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 499,
"cds_start": 43,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015051.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Gln15Lys",
"transcript": "ENST00000371432.7",
"protein_id": "ENSP00000360486.4",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 499,
"cds_start": 43,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371432.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Gln15Lys",
"transcript": "ENST00000371436.10",
"protein_id": "ENSP00000360491.6",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 499,
"cds_start": 43,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371436.10"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Gln15Lys",
"transcript": "ENST00000889302.1",
"protein_id": "ENSP00000559361.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 463,
"cds_start": 43,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889302.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Gln15Lys",
"transcript": "ENST00000889304.1",
"protein_id": "ENSP00000559363.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 463,
"cds_start": 43,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889304.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Gln15Lys",
"transcript": "ENST00000889303.1",
"protein_id": "ENSP00000559362.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 441,
"cds_start": 43,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.101+36432G>T",
"hgvs_p": null,
"transcript": "ENST00000889037.1",
"protein_id": "ENSP00000559096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889037.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-51-5802G>T",
"hgvs_p": null,
"transcript": "NM_181356.3",
"protein_id": "NP_852001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181356.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.101+36432G>T",
"hgvs_p": null,
"transcript": "NM_001350324.2",
"protein_id": "NP_001337253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": null,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350324.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.101+36432G>T",
"hgvs_p": null,
"transcript": "NM_001350329.2",
"protein_id": "NP_001337258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350329.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.101+36432G>T",
"hgvs_p": null,
"transcript": "NM_001350325.2",
"protein_id": "NP_001337254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": null,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350325.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-51-5802G>T",
"hgvs_p": null,
"transcript": "NM_001350326.2",
"protein_id": "NP_001337255.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350326.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-73+36432G>T",
"hgvs_p": null,
"transcript": "NM_001350327.2",
"protein_id": "NP_001337256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350327.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-265+36432G>T",
"hgvs_p": null,
"transcript": "NM_001261823.2",
"protein_id": "NP_001248752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261823.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-51-5802G>T",
"hgvs_p": null,
"transcript": "XM_011514949.4",
"protein_id": "XP_011513251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514949.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
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{
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}
],
"message": null
}