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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: 16-10431381-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10431381&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10431381,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000562102.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "NM_001393719.1",
"protein_id": "NP_001380648.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 682,
"cds_start": 761,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": "ENST00000562102.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "ENST00000562102.6",
"protein_id": "ENSP00000457731.2",
"transcript_support_level": 4,
"aa_start": 254,
"aa_end": null,
"aa_length": 682,
"cds_start": 761,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": "NM_001393719.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "ENST00000356427.2",
"protein_id": "ENSP00000348799.2",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 682,
"cds_start": 761,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "ENST00000396560.6",
"protein_id": "ENSP00000379808.2",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 682,
"cds_start": 761,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "n.761G>T",
"hgvs_p": null,
"transcript": "ENST00000568027.5",
"protein_id": "ENSP00000455259.1",
"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": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "NM_001352120.2",
"protein_id": "NP_001339049.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 682,
"cds_start": 761,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "NM_024997.5",
"protein_id": "NP_079273.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 682,
"cds_start": 761,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "NM_001256160.3",
"protein_id": "NP_001243089.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 543,
"cds_start": 761,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "ENST00000324570.9",
"protein_id": "ENSP00000322811.5",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 543,
"cds_start": 761,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "ENST00000396559.5",
"protein_id": "ENSP00000379807.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 543,
"cds_start": 761,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "XM_006720953.4",
"protein_id": "XP_006721016.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 682,
"cds_start": 761,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "XM_047434683.1",
"protein_id": "XP_047290639.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 682,
"cds_start": 761,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 18312,
"cdna_end": null,
"cdna_length": 20989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "XM_047434684.1",
"protein_id": "XP_047290640.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 682,
"cds_start": 761,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 18248,
"cdna_end": null,
"cdna_length": 20925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "XM_047434685.1",
"protein_id": "XP_047290641.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 543,
"cds_start": 761,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "XM_017023707.3",
"protein_id": "XP_016879196.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 460,
"cds_start": 761,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe",
"transcript": "XM_006720954.5",
"protein_id": "XP_006721017.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 366,
"cds_start": 761,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "n.761G>T",
"hgvs_p": null,
"transcript": "ENST00000535850.5",
"protein_id": "ENSP00000440791.1",
"transcript_support_level": 2,
"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": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "n.982G>T",
"hgvs_p": null,
"transcript": "NR_045815.3",
"protein_id": null,
"transcript_support_level": null,
"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": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "n.982G>T",
"hgvs_p": null,
"transcript": "NR_045816.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "n.1025G>T",
"hgvs_p": null,
"transcript": "NR_147927.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "n.920G>T",
"hgvs_p": null,
"transcript": "XR_007064920.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.-106G>T",
"hgvs_p": null,
"transcript": "XM_017023708.2",
"protein_id": "XP_016879197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"hgvs_c": "c.-16-40729G>T",
"hgvs_p": null,
"transcript": "ENST00000543967.5",
"protein_id": "ENSP00000446119.1",
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"aa_start": null,
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"aa_length": 226,
"cds_start": -4,
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"cds_length": 681,
"cdna_start": null,
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"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATF7IP2",
"gene_hgnc_id": 20397,
"dbsnp": "rs775476351",
"frequency_reference_population": 6.8422946e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84229e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.038567930459976196,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": 0.0792,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.417,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000562102.6",
"gene_symbol": "ATF7IP2",
"hgnc_id": 20397,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.761G>T",
"hgvs_p": "p.Cys254Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}