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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: 14-65076599-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=65076599&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 65076599,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000358664.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.360C>A",
"hgvs_p": "p.Asn120Lys",
"transcript": "NM_002382.5",
"protein_id": "NP_002373.3",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 160,
"cds_start": 360,
"cds_end": null,
"cds_length": 483,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": "ENST00000358664.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.360C>A",
"hgvs_p": "p.Asn120Lys",
"transcript": "ENST00000358664.9",
"protein_id": "ENSP00000351490.4",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 160,
"cds_start": 360,
"cds_end": null,
"cds_length": 483,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": "NM_002382.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.333C>A",
"hgvs_p": "p.Asn111Lys",
"transcript": "ENST00000358402.8",
"protein_id": "ENSP00000351175.4",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 151,
"cds_start": 333,
"cds_end": null,
"cds_length": 456,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "n.*133C>A",
"hgvs_p": null,
"transcript": "ENST00000394606.6",
"protein_id": "ENSP00000378104.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "n.*149C>A",
"hgvs_p": null,
"transcript": "ENST00000553928.5",
"protein_id": "ENSP00000451907.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.*1204C>A",
"hgvs_p": null,
"transcript": "ENST00000284165.10",
"protein_id": "ENSP00000284165.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "n.*133C>A",
"hgvs_p": null,
"transcript": "ENST00000394606.6",
"protein_id": "ENSP00000378104.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "n.*149C>A",
"hgvs_p": null,
"transcript": "ENST00000553928.5",
"protein_id": "ENSP00000451907.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.360C>A",
"hgvs_p": "p.Asn120Lys",
"transcript": "NM_001407094.1",
"protein_id": "NP_001394023.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 160,
"cds_start": 360,
"cds_end": null,
"cds_length": 483,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.333C>A",
"hgvs_p": "p.Asn111Lys",
"transcript": "NM_001407095.1",
"protein_id": "NP_001394024.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 151,
"cds_start": 333,
"cds_end": null,
"cds_length": 456,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.333C>A",
"hgvs_p": "p.Asn111Lys",
"transcript": "NM_145112.3",
"protein_id": "NP_660087.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 151,
"cds_start": 333,
"cds_end": null,
"cds_length": 456,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.252C>A",
"hgvs_p": "p.Asn84Lys",
"transcript": "NM_001407098.1",
"protein_id": "NP_001394027.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 124,
"cds_start": 252,
"cds_end": null,
"cds_length": 375,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.252C>A",
"hgvs_p": "p.Asn84Lys",
"transcript": "ENST00000555419.5",
"protein_id": "ENSP00000452405.1",
"transcript_support_level": 5,
"aa_start": 84,
"aa_end": null,
"aa_length": 124,
"cds_start": 252,
"cds_end": null,
"cds_length": 375,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.171C>A",
"hgvs_p": "p.Asn57Lys",
"transcript": "NM_001320415.2",
"protein_id": "NP_001307344.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 97,
"cds_start": 171,
"cds_end": null,
"cds_length": 294,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.171C>A",
"hgvs_p": "p.Asn57Lys",
"transcript": "NM_001407105.1",
"protein_id": "NP_001394034.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 97,
"cds_start": 171,
"cds_end": null,
"cds_length": 294,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.171C>A",
"hgvs_p": "p.Asn57Lys",
"transcript": "NM_001407106.1",
"protein_id": "NP_001394035.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 97,
"cds_start": 171,
"cds_end": null,
"cds_length": 294,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.171C>A",
"hgvs_p": "p.Asn57Lys",
"transcript": "NM_001407107.1",
"protein_id": "NP_001394036.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 97,
"cds_start": 171,
"cds_end": null,
"cds_length": 294,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.171C>A",
"hgvs_p": "p.Asn57Lys",
"transcript": "ENST00000557277.5",
"protein_id": "ENSP00000450955.1",
"transcript_support_level": 3,
"aa_start": 57,
"aa_end": null,
"aa_length": 97,
"cds_start": 171,
"cds_end": null,
"cds_length": 294,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.159C>A",
"hgvs_p": "p.Asn53Lys",
"transcript": "NM_001407111.1",
"protein_id": "NP_001394040.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 93,
"cds_start": 159,
"cds_end": null,
"cds_length": 282,
"cdna_start": 668,
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"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.159C>A",
"hgvs_p": "p.Asn53Lys",
"transcript": "NM_001407112.1",
"protein_id": "NP_001394041.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 93,
"cds_start": 159,
"cds_end": null,
"cds_length": 282,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.141C>A",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000556892.6",
"protein_id": "ENSP00000452206.2",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 87,
"cds_start": 141,
"cds_end": null,
"cds_length": 264,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Lys",
"transcript": "ENST00000555932.5",
"protein_id": "ENSP00000450763.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 82,
"cds_start": 101,
"cds_end": null,
"cds_length": 249,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "n.484C>A",
"hgvs_p": null,
"transcript": "NR_073137.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1959,
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"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000358664.9",
"gene_symbol": "MAX",
"hgnc_id": 6913,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.360C>A",
"hgvs_p": "p.Asn120Lys"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Hereditary pheochromocytoma-paraganglioma,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Hereditary pheochromocytoma-paraganglioma|not provided|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}