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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: 9-33922527-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=33922527&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 33922527,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018449.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "NM_001370062.2",
"protein_id": "NP_001356991.2",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379238.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370062.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "ENST00000379238.7",
"protein_id": "ENSP00000368540.2",
"transcript_support_level": 5,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370062.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379238.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.2005A>T",
"hgvs_p": null,
"transcript": "ENST00000379235.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000379235.5"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3460A>T",
"hgvs_p": "p.Asn1154Tyr",
"transcript": "ENST00000862381.1",
"protein_id": "ENSP00000532440.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3460,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862381.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3367A>T",
"hgvs_p": "p.Asn1123Tyr",
"transcript": "ENST00000862380.1",
"protein_id": "ENSP00000532439.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862380.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3367A>T",
"hgvs_p": "p.Asn1123Tyr",
"transcript": "ENST00000932762.1",
"protein_id": "ENSP00000602821.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932762.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3355A>T",
"hgvs_p": "p.Asn1119Tyr",
"transcript": "ENST00000862374.1",
"protein_id": "ENSP00000532433.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862374.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3355A>T",
"hgvs_p": "p.Asn1119Tyr",
"transcript": "ENST00000932759.1",
"protein_id": "ENSP00000602818.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932759.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3355A>T",
"hgvs_p": "p.Asn1119Tyr",
"transcript": "ENST00000932767.1",
"protein_id": "ENSP00000602826.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932767.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3355A>T",
"hgvs_p": "p.Asn1119Tyr",
"transcript": "ENST00000956121.1",
"protein_id": "ENSP00000626180.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956121.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3355A>T",
"hgvs_p": "p.Asn1119Tyr",
"transcript": "ENST00000956125.1",
"protein_id": "ENSP00000626184.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3355,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956125.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "NM_001370059.2",
"protein_id": "NP_001356988.2",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370059.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "NM_018449.4",
"protein_id": "NP_060919.4",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018449.4"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "ENST00000682239.1",
"protein_id": "ENSP00000507293.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682239.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "ENST00000684158.1",
"protein_id": "ENSP00000508372.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684158.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "ENST00000862367.1",
"protein_id": "ENSP00000532427.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862367.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "ENST00000862372.1",
"protein_id": "ENSP00000532432.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862372.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "ENST00000932760.1",
"protein_id": "ENSP00000602819.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932760.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "ENST00000956118.1",
"protein_id": "ENSP00000626177.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956118.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr",
"transcript": "ENST00000956120.1",
"protein_id": "ENSP00000626179.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956120.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3256A>T",
"hgvs_p": "p.Asn1086Tyr",
"transcript": "ENST00000862377.1",
"protein_id": "ENSP00000532436.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3256,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862377.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.3223A>T",
"hgvs_p": "p.Asn1075Tyr",
"transcript": "NM_001370066.2",
"protein_id": "NP_001356995.2",
"transcript_support_level": null,
"aa_start": 1075,
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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{
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"exon_count": 30,
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{
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],
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{
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{
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"3_prime_UTR_variant"
],
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"exon_count": 27,
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"gene_symbol": "UBAP2",
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"hgvs_c": "n.*2913A>T",
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"transcript": "ENST00000684754.1",
"protein_id": "ENSP00000507698.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684754.1"
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],
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"dbsnp": "rs745447785",
"frequency_reference_population": 0.000021067268,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000225767,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1661151945590973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.2214,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"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": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018449.4",
"gene_symbol": "UBAP2",
"hgnc_id": 14185,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3337A>T",
"hgvs_p": "p.Asn1113Tyr"
}
],
"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
}