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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: 12-50814319-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50814319&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50814319,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001412960.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "NM_005171.5",
"protein_id": "NP_005162.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262053.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005171.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000262053.8",
"protein_id": "ENSP00000262053.3",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005171.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262053.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Thr202Ile",
"transcript": "NM_001412960.1",
"protein_id": "NP_001399889.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 289,
"cds_start": 605,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412960.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Thr199Ile",
"transcript": "NM_001412961.1",
"protein_id": "NP_001399890.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 286,
"cds_start": 596,
"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": "NM_001412961.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "NM_001412962.1",
"protein_id": "NP_001399891.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412962.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "NM_001412963.1",
"protein_id": "NP_001399892.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412963.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "NM_001412964.1",
"protein_id": "NP_001399893.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412964.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "NM_001412965.1",
"protein_id": "NP_001399894.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412965.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "NM_001412966.1",
"protein_id": "NP_001399895.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412966.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "NM_001412967.1",
"protein_id": "NP_001399896.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412967.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862770.1",
"protein_id": "ENSP00000532829.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862770.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862771.1",
"protein_id": "ENSP00000532830.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862771.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862772.1",
"protein_id": "ENSP00000532831.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862772.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862773.1",
"protein_id": "ENSP00000532832.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862773.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862774.1",
"protein_id": "ENSP00000532833.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862774.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862775.1",
"protein_id": "ENSP00000532834.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862775.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862776.1",
"protein_id": "ENSP00000532835.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862776.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862777.1",
"protein_id": "ENSP00000532836.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862777.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862778.1",
"protein_id": "ENSP00000532837.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862778.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862779.1",
"protein_id": "ENSP00000532838.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862779.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862780.1",
"protein_id": "ENSP00000532839.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862780.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF1",
"gene_hgnc_id": 783,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Ile",
"transcript": "ENST00000862781.1",
"protein_id": "ENSP00000532840.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 271,
"cds_start": 551,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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],
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{
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{
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{
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],
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],
"gene_symbol": "ATF1",
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"dbsnp": "rs564265317",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
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"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2220815122127533,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.2949,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.596,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001412960.1",
"gene_symbol": "ATF1",
"hgnc_id": 783,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.605C>T",
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],
"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
}