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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: 1-11016874-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11016874&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11016874,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007375.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "NM_007375.4",
"protein_id": "NP_031401.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 414,
"cds_start": 269,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000240185.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007375.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000240185.8",
"protein_id": "ENSP00000240185.4",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 414,
"cds_start": 269,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007375.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240185.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000649624.1",
"protein_id": "ENSP00000497327.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 269,
"cds_start": 269,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649624.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000639083.1",
"protein_id": "ENSP00000491203.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 414,
"cds_start": 269,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639083.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000881691.1",
"protein_id": "ENSP00000551750.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 414,
"cds_start": 269,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881691.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000913574.1",
"protein_id": "ENSP00000583633.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 414,
"cds_start": 269,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913574.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000913575.1",
"protein_id": "ENSP00000583634.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 414,
"cds_start": 269,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913575.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000913577.1",
"protein_id": "ENSP00000583636.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 414,
"cds_start": 269,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913577.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000958690.1",
"protein_id": "ENSP00000628749.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 414,
"cds_start": 269,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958690.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000958691.1",
"protein_id": "ENSP00000628750.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 414,
"cds_start": 269,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958691.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000913576.1",
"protein_id": "ENSP00000583635.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 357,
"cds_start": 269,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913576.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000621790.4",
"protein_id": "ENSP00000482191.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 304,
"cds_start": 269,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621790.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000616545.4",
"protein_id": "ENSP00000484722.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 301,
"cds_start": 269,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616545.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000629725.2",
"protein_id": "ENSP00000486989.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 298,
"cds_start": 269,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629725.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000315091.7",
"protein_id": "ENSP00000313129.3",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 295,
"cds_start": 269,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315091.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "ENST00000476201.5",
"protein_id": "ENSP00000466842.2",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 274,
"cds_start": 392,
"cds_end": null,
"cds_length": 827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476201.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000621715.4",
"protein_id": "ENSP00000480690.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 242,
"cds_start": 269,
"cds_end": null,
"cds_length": 730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621715.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000617172.4",
"protein_id": "ENSP00000479219.1",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 211,
"cds_start": 8,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617172.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000473118.5",
"protein_id": "ENSP00000465240.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 200,
"cds_start": 269,
"cds_end": null,
"cds_length": 604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473118.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "c.14C>T",
"hgvs_p": "p.Ala5Val",
"transcript": "ENST00000622057.4",
"protein_id": "ENSP00000481206.1",
"transcript_support_level": 5,
"aa_start": 5,
"aa_end": null,
"aa_length": 199,
"cds_start": 14,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622057.4"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "n.*158C>T",
"hgvs_p": null,
"transcript": "ENST00000472476.5",
"protein_id": "ENSP00000465080.1",
"transcript_support_level": 5,
"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": "ENST00000472476.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARDBP",
"gene_hgnc_id": 11571,
"hgvs_c": "n.269C>T",
"hgvs_p": null,
"transcript": "ENST00000473869.5",
"protein_id": "ENSP00000432132.1",
"transcript_support_level": 5,
"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": "ENST00000473869.5"
},
{
"aa_ref": null,
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"canonical": false,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.887,
"phylop100way_prediction": "Uncertain_significance",
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"mitotip_score": null,
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"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -6,
"benign_score": 7,
"pathogenic_score": 1,
"criteria": [
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"BP4_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_007375.4",
"gene_symbol": "TARDBP",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Ala90Val"
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],
"clinvar_disease": " TARDBP-RELATED,Amyotrophic lateral sclerosis type 10,FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS,Inborn genetic diseases,Parkinsonian disorder,TARDBP-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:1 O:1",
"phenotype_combined": "Amyotrophic lateral sclerosis type 10|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|TARDBP-related disorder|not provided|Inborn genetic diseases|Parkinsonian disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}