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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: 5-74721764-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=74721764&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GFM2",
"hgnc_id": 29682,
"hgvs_c": "c.2327G>C",
"hgvs_p": "p.Arg776Pro",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001281302.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "HEXB",
"hgnc_id": 4879,
"hgvs_c": "n.380+328C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000513867.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9918,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9752135276794434,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_032380.5",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000296805.8",
"protein_coding": true,
"protein_id": "NP_115756.2",
"strand": false,
"transcript": "NM_032380.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000296805.8",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032380.5",
"protein_coding": true,
"protein_id": "ENSP00000296805.3",
"strand": false,
"transcript": "ENST00000296805.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000509430.5",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427004.1",
"strand": false,
"transcript": "ENST00000509430.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 732,
"aa_ref": "R",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 2199,
"cds_start": 2090,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000345239.6",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2090G>C",
"hgvs_p": "p.Arg697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296804.3",
"strand": false,
"transcript": "ENST00000345239.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 811,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": 2553,
"cds_end": null,
"cds_length": 2436,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001281302.2",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2327G>C",
"hgvs_p": "p.Arg776Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268231.1",
"strand": false,
"transcript": "NM_001281302.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000905367.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575426.1",
"strand": false,
"transcript": "ENST00000905367.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 2688,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000905369.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575428.1",
"strand": false,
"transcript": "ENST00000905369.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2876,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905370.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575429.1",
"strand": false,
"transcript": "ENST00000905370.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 2764,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905371.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575430.1",
"strand": false,
"transcript": "ENST00000905371.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2939,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905373.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575432.1",
"strand": false,
"transcript": "ENST00000905373.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 779,
"aa_ref": "R",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000925461.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595520.1",
"strand": false,
"transcript": "ENST00000925461.1",
"transcript_support_level": null
},
{
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"aa_length": 779,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": 2425,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000925463.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595522.1",
"strand": false,
"transcript": "ENST00000925463.1",
"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": 3120,
"cdna_start": 2614,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000925464.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2231G>C",
"hgvs_p": "p.Arg744Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595523.1",
"strand": false,
"transcript": "ENST00000925464.1",
"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": 2877,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905366.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2096G>C",
"hgvs_p": "p.Arg699Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575425.1",
"strand": false,
"transcript": "ENST00000905366.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 732,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2852,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 2199,
"cds_start": 2090,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_170691.3",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2090G>C",
"hgvs_p": "p.Arg697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_733792.1",
"strand": false,
"transcript": "NM_170691.3",
"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": 2812,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2199,
"cds_start": 2090,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000958297.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2090G>C",
"hgvs_p": "p.Arg697Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628356.1",
"strand": false,
"transcript": "ENST00000958297.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": 20,
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"feature": "ENST00000958298.1",
"gene_hgnc_id": 29682,
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"hgvs_c": "c.2090G>C",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000958298.1",
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},
{
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"cdna_length": 2787,
"cdna_start": 2281,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925462.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2075G>C",
"hgvs_p": "p.Arg692Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595521.1",
"strand": false,
"transcript": "ENST00000925462.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 2124,
"cds_start": 2015,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000958296.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.2015G>C",
"hgvs_p": "p.Arg672Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628355.1",
"strand": false,
"transcript": "ENST00000958296.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 687,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 2164,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1955,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000905368.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.1955G>C",
"hgvs_p": "p.Arg652Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575427.1",
"strand": false,
"transcript": "ENST00000905368.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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