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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: 11-64729007-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64729007&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64729007,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001440703.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "NM_001098671.2",
"protein_id": "NP_001092141.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 609,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394432.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098671.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000394432.8",
"protein_id": "ENSP00000377953.3",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 609,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098671.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394432.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000354024.7",
"protein_id": "ENSP00000338864.3",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 609,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354024.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000377497.7",
"protein_id": "ENSP00000366717.3",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 609,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377497.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "NM_001440703.1",
"protein_id": "NP_001427632.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 639,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440703.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "NM_001440704.1",
"protein_id": "NP_001427633.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 638,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440704.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000892275.1",
"protein_id": "ENSP00000562334.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 638,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892275.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000892282.1",
"protein_id": "ENSP00000562341.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 638,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892282.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001440705.1",
"protein_id": "NP_001427634.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 637,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440705.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1657C>T",
"hgvs_p": "p.Arg553Cys",
"transcript": "ENST00000956340.1",
"protein_id": "ENSP00000626399.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 619,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956340.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000892276.1",
"protein_id": "ENSP00000562335.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 615,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892276.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000892285.1",
"protein_id": "ENSP00000562344.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 615,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892285.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "NM_001440690.1",
"protein_id": "NP_001427619.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 610,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440690.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "NM_001440691.1",
"protein_id": "NP_001427620.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 610,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440691.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "NM_001440692.1",
"protein_id": "NP_001427621.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 610,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440692.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "NM_001440693.1",
"protein_id": "NP_001427622.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 610,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440693.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000377494.5",
"protein_id": "ENSP00000366714.1",
"transcript_support_level": 2,
"aa_start": 543,
"aa_end": null,
"aa_length": 610,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377494.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000892271.1",
"protein_id": "ENSP00000562330.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 610,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892271.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000892272.1",
"protein_id": "ENSP00000562331.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 610,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892272.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000892273.1",
"protein_id": "ENSP00000562332.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 610,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892273.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000892280.1",
"protein_id": "ENSP00000562339.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 610,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892280.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000956339.1",
"protein_id": "ENSP00000626398.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 610,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1833,
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"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}