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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: 9-2828764-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2828764&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PUM3",
"hgnc_id": 29676,
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014878.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014878.5",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397885.3",
"protein_coding": true,
"protein_id": "NP_055693.4",
"strand": false,
"transcript": "NM_014878.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397885.3",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014878.5",
"protein_coding": true,
"protein_id": "ENSP00000380982.2",
"strand": false,
"transcript": "ENST00000397885.3",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 2067,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861029.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.986_987delGAinsAG",
"hgvs_p": "p.Arg329Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531088.1",
"strand": false,
"transcript": "ENST00000861029.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 688,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 2067,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922208.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.986_987delGAinsAG",
"hgvs_p": "p.Arg329Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592267.1",
"strand": false,
"transcript": "ENST00000922208.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861028.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531087.1",
"strand": false,
"transcript": "ENST00000861028.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861034.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531093.1",
"strand": false,
"transcript": "ENST00000861034.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 2039,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861035.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531094.1",
"strand": false,
"transcript": "ENST00000861035.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861036.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531095.1",
"strand": false,
"transcript": "ENST00000861036.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4028,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922205.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592264.1",
"strand": false,
"transcript": "ENST00000922205.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922206.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592265.1",
"strand": false,
"transcript": "ENST00000922206.1",
"transcript_support_level": null
},
{
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"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5000,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922207.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592266.1",
"strand": false,
"transcript": "ENST00000922207.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922209.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592268.1",
"strand": false,
"transcript": "ENST00000922209.1",
"transcript_support_level": null
},
{
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"aa_length": 648,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 1023,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922212.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592271.1",
"strand": false,
"transcript": "ENST00000922212.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922213.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592272.1",
"strand": false,
"transcript": "ENST00000922213.1",
"transcript_support_level": null
},
{
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"aa_length": 648,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5732,
"cdna_start": 4484,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922215.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592274.1",
"strand": false,
"transcript": "ENST00000922215.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922216.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592275.1",
"strand": false,
"transcript": "ENST00000922216.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1947,
"cds_start": 866,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922217.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.866_867delGAinsAG",
"hgvs_p": "p.Arg289Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592276.1",
"strand": false,
"transcript": "ENST00000922217.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1944,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861032.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.863_864delGAinsAG",
"hgvs_p": "p.Arg288Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531091.1",
"strand": false,
"transcript": "ENST00000861032.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 647,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1944,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922210.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.863_864delGAinsAG",
"hgvs_p": "p.Arg288Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592269.1",
"strand": false,
"transcript": "ENST00000922210.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 646,
"aa_ref": "R",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1941,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954334.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.860_861delGAinsAG",
"hgvs_p": "p.Arg287Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624393.1",
"strand": false,
"transcript": "ENST00000954334.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2151,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1923,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954335.1",
"gene_hgnc_id": 29676,
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