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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: 12-51986839-TGATGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51986839&ref=TGATGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51986839,
"ref": "TGATGA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_020328.4",
"consequences": [
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1159_1163delGATGA",
"hgvs_p": "p.Asp387fs",
"transcript": "NM_004302.5",
"protein_id": "NP_004293.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 505,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257963.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004302.5"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1159_1163delGATGA",
"hgvs_p": "p.Asp387fs",
"transcript": "ENST00000257963.9",
"protein_id": "ENSP00000257963.4",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 505,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004302.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257963.9"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1282_1286delGATGA",
"hgvs_p": "p.Asp428fs",
"transcript": "NM_020328.4",
"protein_id": "NP_064733.3",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 546,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020328.4"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1282_1286delGATGA",
"hgvs_p": "p.Asp428fs",
"transcript": "ENST00000541224.5",
"protein_id": "ENSP00000442656.1",
"transcript_support_level": 2,
"aa_start": 428,
"aa_end": null,
"aa_length": 546,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541224.5"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1279_1283delGATGA",
"hgvs_p": "p.Asp427fs",
"transcript": "NM_001412774.1",
"protein_id": "NP_001399703.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412774.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1279_1283delGATGA",
"hgvs_p": "p.Asp427fs",
"transcript": "ENST00000900350.1",
"protein_id": "ENSP00000570409.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 545,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900350.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1159_1163delGATGA",
"hgvs_p": "p.Asp387fs",
"transcript": "NM_001412775.1",
"protein_id": "NP_001399704.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 504,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412775.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1159_1163delGATGA",
"hgvs_p": "p.Asp387fs",
"transcript": "ENST00000415850.6",
"protein_id": "ENSP00000397550.2",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 487,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415850.6"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1159_1163delGATGA",
"hgvs_p": "p.Asp387fs",
"transcript": "ENST00000426655.6",
"protein_id": "ENSP00000390477.2",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 476,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426655.6"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1018_1022delGATGA",
"hgvs_p": "p.Asp340fs",
"transcript": "NM_001412776.1",
"protein_id": "NP_001399705.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 458,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412776.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1018_1022delGATGA",
"hgvs_p": "p.Asp340fs",
"transcript": "ENST00000900349.1",
"protein_id": "ENSP00000570408.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 458,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900349.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1003_1007delGATGA",
"hgvs_p": "p.Asp335fs",
"transcript": "NM_001412778.1",
"protein_id": "NP_001399707.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 453,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412778.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1003_1007delGATGA",
"hgvs_p": "p.Asp335fs",
"transcript": "NM_001412779.1",
"protein_id": "NP_001399708.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 453,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412779.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1003_1007delGATGA",
"hgvs_p": "p.Asp335fs",
"transcript": "NM_001412780.1",
"protein_id": "NP_001399709.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 453,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412780.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1003_1007delGATGA",
"hgvs_p": "p.Asp335fs",
"transcript": "NM_001412781.1",
"protein_id": "NP_001399710.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 453,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412781.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1003_1007delGATGA",
"hgvs_p": "p.Asp335fs",
"transcript": "NM_020327.5",
"protein_id": "NP_064732.3",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 453,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020327.5"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1003_1007delGATGA",
"hgvs_p": "p.Asp335fs",
"transcript": "ENST00000542485.1",
"protein_id": "ENSP00000442885.1",
"transcript_support_level": 2,
"aa_start": 335,
"aa_end": null,
"aa_length": 453,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542485.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.991_995delGATGA",
"hgvs_p": "p.Asp331fs",
"transcript": "ENST00000900348.1",
"protein_id": "ENSP00000570407.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 449,
"cds_start": 991,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900348.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.928_932delGATGA",
"hgvs_p": "p.Asp310fs",
"transcript": "NM_001412777.1",
"protein_id": "NP_001399706.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 428,
"cds_start": 928,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412777.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.928_932delGATGA",
"hgvs_p": "p.Asp310fs",
"transcript": "ENST00000900346.1",
"protein_id": "ENSP00000570405.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 428,
"cds_start": 928,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900346.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.760_764delGATGA",
"hgvs_p": "p.Asp254fs",
"transcript": "NM_001412784.1",
"protein_id": "NP_001399713.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 372,
"cds_start": 760,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412784.1"
},
{
"aa_ref": "DE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1B",
"gene_hgnc_id": 172,
"hgvs_c": "c.1126_1130delGATGA",
"hgvs_p": "p.Asp376fs",
"transcript": "XM_047429856.1",
"protein_id": "XP_047285812.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 494,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"verdict": "Uncertain_significance",
"transcript": "NM_020328.4",
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Carcinoma of pancreas",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}