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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: 19-4409167-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4409167&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CHAF1A",
"hgnc_id": 1910,
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_005483.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.1113,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13831642270088196,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 956,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 491,
"cds_end": null,
"cds_length": 2871,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005483.3",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301280.10",
"protein_coding": true,
"protein_id": "NP_005474.2",
"strand": true,
"transcript": "NM_005483.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 956,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 491,
"cds_end": null,
"cds_length": 2871,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000301280.10",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005483.3",
"protein_coding": true,
"protein_id": "ENSP00000301280.4",
"strand": true,
"transcript": "ENST00000301280.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1063,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3708,
"cdna_start": 514,
"cds_end": null,
"cds_length": 3192,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900275.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570334.1",
"strand": true,
"transcript": "ENST00000900275.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 474,
"cds_end": null,
"cds_length": 3021,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926550.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596609.1",
"strand": true,
"transcript": "ENST00000926550.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 971,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 490,
"cds_end": null,
"cds_length": 2916,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900277.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570336.1",
"strand": true,
"transcript": "ENST00000900277.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 970,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3406,
"cdna_start": 490,
"cds_end": null,
"cds_length": 2913,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926546.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596605.1",
"strand": true,
"transcript": "ENST00000926546.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 963,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3357,
"cdna_start": 463,
"cds_end": null,
"cds_length": 2892,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926549.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596608.1",
"strand": true,
"transcript": "ENST00000926549.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 955,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 502,
"cds_end": null,
"cds_length": 2868,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900276.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570335.1",
"strand": true,
"transcript": "ENST00000900276.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 954,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3346,
"cdna_start": 477,
"cds_end": null,
"cds_length": 2865,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926547.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596606.1",
"strand": true,
"transcript": "ENST00000926547.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 933,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 502,
"cds_end": null,
"cds_length": 2802,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926544.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596603.1",
"strand": true,
"transcript": "ENST00000926544.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 797,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 477,
"cds_end": null,
"cds_length": 2394,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926548.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596607.1",
"strand": true,
"transcript": "ENST00000926548.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 385,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 501,
"cds_end": null,
"cds_length": 1158,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926545.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596604.1",
"strand": true,
"transcript": "ENST00000926545.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 150,
"aa_ref": "S",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 499,
"cdna_start": 363,
"cds_end": null,
"cds_length": 453,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000585854.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Ser106Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465142.1",
"strand": true,
"transcript": "ENST00000585854.1",
"transcript_support_level": 2
},
{
"aa_alt": "L",
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"aa_length": 950,
"aa_ref": "S",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6619,
"cdna_start": 491,
"cds_end": null,
"cds_length": 2853,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011527605.3",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525907.1",
"strand": true,
"transcript": "XM_011527605.3",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3309,
"cdna_start": 491,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011527607.3",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ser123Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525909.1",
"strand": true,
"transcript": "XM_011527607.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": null,
"cds_end": null,
"cds_length": 1443,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438011.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.-469+3205C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293967.1",
"strand": true,
"transcript": "XM_047438011.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": null,
"cds_end": null,
"cds_length": 1443,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438012.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "c.-469+6353C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293968.1",
"strand": true,
"transcript": "XM_047438012.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000587580.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "n.454C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000587580.1",
"transcript_support_level": 3
},
{
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"aa_ref": null,
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"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_007066505.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "n.491C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007066505.1",
"transcript_support_level": null
},
{
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"aa_length": null,
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8749,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_007066507.1",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "n.491C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007066507.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6245,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_936135.3",
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"hgvs_c": "n.491C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_936135.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs140374238",
"effect": "missense_variant",
"frequency_reference_population": 0.000017967359,
"gene_hgnc_id": 1910,
"gene_symbol": "CHAF1A",
"gnomad_exomes_ac": 27,
"gnomad_exomes_af": 0.0000184693,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131449,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.93,
"pos": 4409167,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.09,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005483.3"
}
]
}