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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: 15-30904756-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=30904756&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 30904756,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014967.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "NM_014967.5",
"protein_id": "NP_055782.3",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000362065.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014967.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000362065.9",
"protein_id": "ENSP00000354497.4",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014967.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362065.9"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000561594.5",
"protein_id": "ENSP00000455983.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 533,
"cds_start": 93,
"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": "ENST00000561594.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000561607.6",
"protein_id": "ENSP00000454223.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 533,
"cds_start": 93,
"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": "ENST00000561607.6"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.93T>G",
"hgvs_p": null,
"transcript": "ENST00000565280.5",
"protein_id": "ENSP00000455573.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000565280.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000915272.1",
"protein_id": "ENSP00000585331.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1065,
"cds_start": 93,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915272.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000879296.1",
"protein_id": "ENSP00000549355.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1022,
"cds_start": 93,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879296.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000879300.1",
"protein_id": "ENSP00000549359.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1022,
"cds_start": 93,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879300.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000656435.1",
"protein_id": "ENSP00000499534.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656435.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000657391.1",
"protein_id": "ENSP00000499703.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000657391.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000670849.1",
"protein_id": "ENSP00000499638.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000670849.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000879297.1",
"protein_id": "ENSP00000549356.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879297.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000879299.1",
"protein_id": "ENSP00000549358.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879299.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000879301.1",
"protein_id": "ENSP00000549360.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879301.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000915271.1",
"protein_id": "ENSP00000585330.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915271.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000915273.1",
"protein_id": "ENSP00000585332.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915273.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000967654.1",
"protein_id": "ENSP00000637713.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1017,
"cds_start": 93,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967654.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000967653.1",
"protein_id": "ENSP00000637712.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 1012,
"cds_start": 93,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967653.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000967655.1",
"protein_id": "ENSP00000637714.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 997,
"cds_start": 93,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967655.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000915277.1",
"protein_id": "ENSP00000585336.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 974,
"cds_start": 93,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915277.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000879298.1",
"protein_id": "ENSP00000549357.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 973,
"cds_start": 93,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879298.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met",
"transcript": "ENST00000915276.1",
"protein_id": "ENSP00000585335.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 973,
"cds_start": 93,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915276.1"
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{
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{
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"gene_symbol": "FAN1",
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],
"gene_symbol": "FAN1",
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"dbsnp": "rs781134478",
"frequency_reference_population": 0.000004791921,
"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13462170958518982,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.1042,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.3,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5,BP4",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014967.5",
"gene_symbol": "FAN1",
"hgnc_id": 29170,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.93T>G",
"hgvs_p": "p.Ile31Met"
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],
"clinvar_disease": "Karyomegalic interstitial nephritis,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "not provided|Karyomegalic interstitial nephritis",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}