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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: 6-31936003-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31936003&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "C2",
"hgnc_id": 1248,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Asn310Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_000063.6",
"verdict": "Benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000244255",
"hgnc_id": null,
"hgvs_c": "c.530-1316C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000456570.5",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "C2-AS1",
"hgnc_id": 49464,
"hgvs_c": "n.18G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000817243.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": 144,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "6",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 752,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 966,
"cds_end": null,
"cds_length": 2259,
"cds_start": 930,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000063.6",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Asn310Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299367.10",
"protein_coding": true,
"protein_id": "NP_000054.2",
"strand": true,
"transcript": "NM_000063.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 752,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 966,
"cds_end": null,
"cds_length": 2259,
"cds_start": 930,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000299367.10",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Asn310Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000063.6",
"protein_coding": true,
"protein_id": "ENSP00000299367.5",
"strand": true,
"transcript": "ENST00000299367.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1266,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3874,
"cdna_start": null,
"cds_end": null,
"cds_length": 3801,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456570.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000244255",
"hgvs_c": "c.530-1316C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410815.1",
"strand": true,
"transcript": "ENST00000456570.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 723,
"aa_ref": "N",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2638,
"cdna_start": 994,
"cds_end": null,
"cds_length": 2172,
"cds_start": 843,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282458.2",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.843C>T",
"hgvs_p": "p.Asn281Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269387.1",
"strand": true,
"transcript": "NM_001282458.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 690,
"aa_ref": "N",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": 972,
"cds_end": null,
"cds_length": 2073,
"cds_start": 744,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000447952.7",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.744C>T",
"hgvs_p": "p.Asn248Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391354.3",
"strand": true,
"transcript": "ENST00000447952.7",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 678,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 942,
"cds_end": null,
"cds_length": 2037,
"cds_start": 930,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695638.1",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Asn310Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512076.1",
"strand": true,
"transcript": "ENST00000695638.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 620,
"aa_ref": "N",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1863,
"cds_start": 534,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001145903.3",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.534C>T",
"hgvs_p": "p.Asn178Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139375.1",
"strand": true,
"transcript": "NM_001145903.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 620,
"aa_ref": "N",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1863,
"cds_start": 534,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000442278.6",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.534C>T",
"hgvs_p": "p.Asn178Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395683.2",
"strand": true,
"transcript": "ENST00000442278.6",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 617,
"aa_ref": "N",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1854,
"cds_start": 525,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695637.1",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.525C>T",
"hgvs_p": "p.Asn175Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512074.1",
"strand": true,
"transcript": "ENST00000695637.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 560,
"aa_ref": "N",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 545,
"cds_end": null,
"cds_length": 1683,
"cds_start": 534,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000695644.1",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.534C>T",
"hgvs_p": "p.Asn178Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512079.1",
"strand": true,
"transcript": "ENST00000695644.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 539,
"aa_ref": "N",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 510,
"cds_end": null,
"cds_length": 1620,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000497706.6",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Asn97Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417482.2",
"strand": true,
"transcript": "ENST00000497706.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 506,
"aa_ref": "N",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1521,
"cds_start": 192,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001282457.2",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Asn64Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269386.1",
"strand": true,
"transcript": "NM_001282457.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 506,
"aa_ref": "N",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 413,
"cds_end": null,
"cds_length": 1521,
"cds_start": 192,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000469372.5",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Asn64Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418923.1",
"strand": true,
"transcript": "ENST00000469372.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3377,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000477310.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000244255",
"hgvs_c": "c.443-1316C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418996.1",
"strand": true,
"transcript": "ENST00000477310.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 661,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": null,
"cds_end": null,
"cds_length": 1986,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862556.1",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.716-1316C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532615.1",
"strand": true,
"transcript": "ENST00000862556.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 661,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": null,
"cds_end": null,
"cds_length": 1986,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862557.1",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.716-1316C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532616.1",
"strand": true,
"transcript": "ENST00000862557.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862558.1",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.530-1316C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532617.1",
"strand": true,
"transcript": "ENST00000862558.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": null,
"cds_end": null,
"cds_length": 1617,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001178063.3",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.347-1316C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171534.1",
"strand": true,
"transcript": "NM_001178063.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": null,
"cds_end": null,
"cds_length": 1617,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452323.7",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.347-1316C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392322.2",
"strand": true,
"transcript": "ENST00000452323.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 525,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": null,
"cds_end": null,
"cds_length": 1578,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000383177.7",
"gene_hgnc_id": 1248,
"gene_symbol": "C2",
"hgvs_c": "c.308-1316C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372664.3",
"strand": true,
"transcript": "ENST00000383177.7",
"transcript_support_level": 5
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