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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: 5-141929624-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141929624&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 141929624,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014773.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "NM_014773.5",
"protein_id": "NP_055588.3",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 515,
"cds_start": 455,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000432126.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014773.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000432126.7",
"protein_id": "ENSP00000396225.2",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 515,
"cds_start": 455,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014773.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432126.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000959462.1",
"protein_id": "ENSP00000629521.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 542,
"cds_start": 455,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959462.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Pro170Leu",
"transcript": "ENST00000959463.1",
"protein_id": "ENSP00000629522.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 533,
"cds_start": 509,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959463.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000895932.1",
"protein_id": "ENSP00000565991.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 522,
"cds_start": 455,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895932.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "NM_001142603.3",
"protein_id": "NP_001136075.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 515,
"cds_start": 455,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142603.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000194118.8",
"protein_id": "ENSP00000194118.4",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 515,
"cds_start": 455,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000194118.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000895929.1",
"protein_id": "ENSP00000565988.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 515,
"cds_start": 455,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895929.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000895930.1",
"protein_id": "ENSP00000565989.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 515,
"cds_start": 455,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895930.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000895931.1",
"protein_id": "ENSP00000565990.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 515,
"cds_start": 455,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895931.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000959461.1",
"protein_id": "ENSP00000629520.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 454,
"cds_start": 455,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959461.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000924856.1",
"protein_id": "ENSP00000594915.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 431,
"cds_start": 455,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924856.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000508751.1",
"protein_id": "ENSP00000422686.1",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 321,
"cds_start": 455,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508751.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "XM_005268547.5",
"protein_id": "XP_005268604.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 515,
"cds_start": 455,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268547.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "XM_011537715.3",
"protein_id": "XP_011536017.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 405,
"cds_start": 455,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537715.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "XM_005268552.3",
"protein_id": "XP_005268609.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 389,
"cds_start": 455,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268552.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "XM_011537716.4",
"protein_id": "XP_011536018.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 286,
"cds_start": 455,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537716.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "n.526C>T",
"hgvs_p": null,
"transcript": "XR_001742388.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001742388.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "n.526C>T",
"hgvs_p": null,
"transcript": "XR_007058664.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "n.526C>T",
"hgvs_p": null,
"transcript": "XR_007058665.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058665.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "n.526C>T",
"hgvs_p": null,
"transcript": "XR_007058666.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "n.526C>T",
"hgvs_p": null,
"transcript": "XR_007058667.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"hgvs_c": "n.526C>T",
"hgvs_p": null,
"transcript": "XR_427783.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_427783.3"
}
],
"gene_symbol": "DELE1",
"gene_hgnc_id": 28969,
"dbsnp": "rs201186658",
"frequency_reference_population": 0.00026146125,
"hom_count_reference_population": 0,
"allele_count_reference_population": 422,
"gnomad_exomes_af": 0.000277732,
"gnomad_genomes_af": 0.00010515,
"gnomad_exomes_ac": 406,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06724843382835388,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.0926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.307,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014773.5",
"gene_symbol": "DELE1",
"hgnc_id": 28969,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}