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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: 5-74747731-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=74747731&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GFM2",
"hgnc_id": 29682,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Gln",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_001281302.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_score": 7,
"allele_count_reference_population": 106,
"alphamissense_prediction": null,
"alphamissense_score": 0.28,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Combined oxidative phosphorylation deficiency 39,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,Mitochondrial disease,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:3 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9398226737976074,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 773,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_032380.5",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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": "Q",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 773,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000296805.8",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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": "Q",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 879,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000509430.5",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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": "Q",
"aa_end": null,
"aa_length": 732,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 777,
"cds_end": null,
"cds_length": 2199,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000345239.6",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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": "Q",
"aa_end": null,
"aa_length": 284,
"aa_ref": "R",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1004,
"cdna_start": 591,
"cds_end": null,
"cds_length": 856,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000509097.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421717.1",
"strand": false,
"transcript": "ENST00000509097.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 811,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": 891,
"cds_end": null,
"cds_length": 2436,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001281302.2",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Gln",
"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": "Q",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000905367.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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": "Q",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000905369.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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": "Q",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905370.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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": "Q",
"aa_end": null,
"aa_length": 779,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905371.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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
},
{
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"aa_length": 779,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2939,
"cdna_start": 777,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905373.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575432.1",
"strand": false,
"transcript": "ENST00000905373.1",
"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": 2948,
"cdna_start": 780,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925461.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595520.1",
"strand": false,
"transcript": "ENST00000925461.1",
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},
{
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"cdna_start": 763,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
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],
"exon_count": 21,
"exon_rank": 8,
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"feature": "ENST00000925463.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"intron_rank": null,
"intron_rank_end": null,
"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_length": 779,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 952,
"cds_end": null,
"cds_length": 2340,
"cds_start": 569,
"consequences": [
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],
"exon_count": 22,
"exon_rank": 9,
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"feature": "ENST00000925464.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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": 792,
"cds_end": null,
"cds_length": 2205,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905366.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575425.1",
"strand": false,
"transcript": "ENST00000905366.1",
"transcript_support_level": null
},
{
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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": 773,
"cds_end": null,
"cds_length": 2199,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_170691.3",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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",
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"cdna_start": 791,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000958297.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628356.1",
"strand": false,
"transcript": "ENST00000958297.1",
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},
{
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"cds_end": null,
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"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
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"feature": "ENST00000958298.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628357.1",
"strand": false,
"transcript": "ENST00000958298.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 619,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925462.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595521.1",
"strand": false,
"transcript": "ENST00000925462.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 707,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 799,
"cds_end": null,
"cds_length": 2124,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958296.1",
"gene_hgnc_id": 29682,
"gene_symbol": "GFM2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"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": "Q",
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"aa_length": 687,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 778,
"cds_end": null,
"cds_length": 2064,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905368.1",
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