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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: 2-73847660-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73847660&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73847660,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000394070.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "NM_213622.4",
"protein_id": "NP_998787.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 6746,
"mane_select": "ENST00000394070.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000394070.7",
"protein_id": "ENSP00000377633.2",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 6746,
"mane_select": "NM_213622.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000394073.6",
"protein_id": "ENSP00000377636.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000683877.1",
"protein_id": "ENSP00000507446.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 435,
"cds_start": 649,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "NM_001353967.2",
"protein_id": "NP_001340896.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 6338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "NM_001353968.2",
"protein_id": "NP_001340897.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 6306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "NM_001438900.1",
"protein_id": "NP_001425829.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "NM_006463.6",
"protein_id": "NP_006454.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "NM_201647.4",
"protein_id": "NP_964010.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000339566.7",
"protein_id": "ENSP00000344742.3",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 6277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000409707.6",
"protein_id": "ENSP00000386548.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000682157.1",
"protein_id": "ENSP00000507848.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000682351.1",
"protein_id": "ENSP00000506833.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000682558.1",
"protein_id": "ENSP00000507014.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
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"cdna_start": 914,
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"cdna_length": 6433,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000683818.1",
"protein_id": "ENSP00000507658.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 424,
"cds_start": 649,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 8034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000684585.1",
"protein_id": "ENSP00000507054.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
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"cds_start": 649,
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"cdna_start": 797,
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"cdna_length": 6316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Gln216*",
"transcript": "ENST00000683434.1",
"protein_id": "ENSP00000507622.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 423,
"cds_start": 646,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Gln214*",
"transcript": "ENST00000683391.1",
"protein_id": "ENSP00000506772.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 421,
"cds_start": 640,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Gln214*",
"transcript": "ENST00000683902.1",
"protein_id": "ENSP00000507096.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 421,
"cds_start": 640,
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"cdna_start": 640,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "NM_001353969.2",
"protein_id": "NP_001340898.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 410,
"cds_start": 649,
"cds_end": null,
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"cdna_start": 697,
"cdna_end": null,
"cdna_length": 6288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "NM_001353970.2",
"protein_id": "NP_001340899.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 410,
"cds_start": 649,
"cds_end": null,
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"cdna_start": 877,
"cdna_end": null,
"cdna_length": 6468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000682799.1",
"protein_id": "ENSP00000507089.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 410,
"cds_start": 649,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAMBP",
"gene_hgnc_id": 16950,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000683349.1",
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000394070.7",
"gene_symbol": "STAMBP",
"hgnc_id": 16950,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000650890.2",
"gene_symbol": "ENSG00000286244",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.346-8758G>A",
"hgvs_p": null
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000717334.1",
"gene_symbol": "ENSG00000293671",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.338-8758G>A",
"hgvs_p": null
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_002959405.2",
"gene_symbol": "LOC112268419",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.760+1583G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Microcephaly-capillary malformation syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Microcephaly-capillary malformation syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}