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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: 21-34834414-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=34834414&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 34834414,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000675419.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Met267Ile",
"transcript": "NM_001754.5",
"protein_id": "NP_001745.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 480,
"cds_start": 801,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": "ENST00000675419.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Met267Ile",
"transcript": "ENST00000675419.1",
"protein_id": "ENSP00000501943.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 480,
"cds_start": 801,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": "NM_001754.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Met267Ile",
"transcript": "ENST00000300305.7",
"protein_id": "ENSP00000300305.3",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 480,
"cds_start": 801,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 6222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Met240Ile",
"transcript": "ENST00000344691.8",
"protein_id": "ENSP00000340690.4",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 453,
"cds_start": 720,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 7274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Met240Ile",
"transcript": "ENST00000358356.9",
"protein_id": "ENSP00000351123.5",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 250,
"cds_start": 720,
"cds_end": null,
"cds_length": 753,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "n.337G>A",
"hgvs_p": null,
"transcript": "ENST00000469087.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "n.*391G>A",
"hgvs_p": null,
"transcript": "ENST00000482318.5",
"protein_id": "ENSP00000477067.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "n.*391G>A",
"hgvs_p": null,
"transcript": "ENST00000482318.5",
"protein_id": "ENSP00000477067.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Met240Ile",
"transcript": "NM_001001890.3",
"protein_id": "NP_001001890.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 453,
"cds_start": 720,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.765G>A",
"hgvs_p": "p.Met255Ile",
"transcript": "ENST00000399237.6",
"protein_id": "ENSP00000382182.2",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 255,
"cds_start": 765,
"cds_end": null,
"cds_length": 769,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Met240Ile",
"transcript": "NM_001122607.2",
"protein_id": "NP_001116079.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 250,
"cds_start": 720,
"cds_end": null,
"cds_length": 753,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Met267Ile",
"transcript": "XM_011529766.3",
"protein_id": "XP_011528068.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 480,
"cds_start": 801,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 6058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Met267Ile",
"transcript": "XM_047441007.1",
"protein_id": "XP_047296963.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 480,
"cds_start": 801,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 6180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.765G>A",
"hgvs_p": "p.Met255Ile",
"transcript": "XM_005261068.4",
"protein_id": "XP_005261125.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 468,
"cds_start": 765,
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"cdna_start": 788,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.762G>A",
"hgvs_p": "p.Met254Ile",
"transcript": "XM_011529767.3",
"protein_id": "XP_011528069.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 467,
"cds_start": 762,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 5932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.762G>A",
"hgvs_p": "p.Met254Ile",
"transcript": "XM_047441009.1",
"protein_id": "XP_047296965.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
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"cds_start": 762,
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"cdna_start": 1165,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.762G>A",
"hgvs_p": "p.Met254Ile",
"transcript": "XM_047441010.1",
"protein_id": "XP_047296966.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 467,
"cds_start": 762,
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"cdna_start": 1043,
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"cdna_length": 6019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Met267Ile",
"transcript": "XM_011529770.3",
"protein_id": "XP_011528072.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 277,
"cds_start": 801,
"cds_end": null,
"cds_length": 834,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.532+25060G>A",
"hgvs_p": null,
"transcript": "ENST00000399240.5",
"protein_id": "ENSP00000382184.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 389,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.613+25060G>A",
"hgvs_p": null,
"transcript": "XM_005261069.5",
"protein_id": "XP_005261126.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.613+25060G>A",
"hgvs_p": null,
"transcript": "XM_047441011.1",
"protein_id": "XP_047296967.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.613+25060G>A",
"hgvs_p": null,
"transcript": "XM_047441012.1",
"protein_id": "XP_047296968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": -4,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RUNX1",
"gene_hgnc_id": 10471,
"hgvs_c": "c.577+25060G>A",
"hgvs_p": null,
"transcript": "XM_047441013.1",
"protein_id": "XP_047296969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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{
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}
],
"gene_symbol": "RUNX1",
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"dbsnp": "rs757570529",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.05821162462234497,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.283,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.187,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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{
"score": -2,
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"criteria": [
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"BS3_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000675419.1",
"gene_symbol": "RUNX1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Met267Ile"
}
],
"clinvar_disease": "Acute myeloid leukemia,Hereditary thrombocytopenia and hematologic cancer predisposition syndrome,Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Acute myeloid leukemia|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}