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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: 20-50893581-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=50893581&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 50893581,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001439000.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "NM_001282531.3",
"protein_id": "NP_001269460.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000621696.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282531.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000621696.5",
"protein_id": "ENSP00000483881.1",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001282531.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621696.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000349014.8",
"protein_id": "ENSP00000342905.3",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349014.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000371602.9",
"protein_id": "ENSP00000360662.2",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371602.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000396029.8",
"protein_id": "ENSP00000379346.3",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396029.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Tyr450Cys",
"transcript": "NM_001439000.1",
"protein_id": "NP_001425929.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1349,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439000.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Tyr450Cys",
"transcript": "ENST00000673732.1",
"protein_id": "ENSP00000501294.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1349,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673732.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "NM_001282532.2",
"protein_id": "NP_001269461.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282532.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "NM_001347511.2",
"protein_id": "NP_001334440.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347511.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "NM_015339.5",
"protein_id": "NP_056154.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015339.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "NM_181442.4",
"protein_id": "NP_852107.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181442.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000396032.8",
"protein_id": "ENSP00000379349.2",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396032.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000908532.1",
"protein_id": "ENSP00000578591.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908532.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000908533.1",
"protein_id": "ENSP00000578592.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908533.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000933179.1",
"protein_id": "ENSP00000603238.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933179.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000933180.1",
"protein_id": "ENSP00000603239.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933180.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000933181.1",
"protein_id": "ENSP00000603240.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933181.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000933182.1",
"protein_id": "ENSP00000603241.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933182.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000971605.1",
"protein_id": "ENSP00000641664.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971605.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000971606.1",
"protein_id": "ENSP00000641665.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971606.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Tyr150Cys",
"transcript": "NM_001439001.1",
"protein_id": "NP_001425930.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 874,
"cds_start": 449,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439001.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP",
"gene_hgnc_id": 15766,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Tyr150Cys",
"transcript": "ENST00000645081.1",
"protein_id": "ENSP00000495540.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 874,
"cds_start": 449,
"cds_end": null,
"cds_length": 2625,
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],
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"computational_score_selected": 0.22099506855010986,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -8,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
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"effects": [
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"inheritance_mode": "AD,Unknown",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}