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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: 19-40608363-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40608363&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40608363,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001042544.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "NM_001042545.2",
"protein_id": "NP_001036010.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1557,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396819.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042545.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000396819.8",
"protein_id": "ENSP00000380031.5",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 1557,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042545.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396819.8"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1501T>C",
"hgvs_p": "p.Ser501Pro",
"transcript": "ENST00000308370.11",
"protein_id": "ENSP00000311905.8",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 1624,
"cds_start": 1501,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308370.11"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1390T>C",
"hgvs_p": "p.Ser464Pro",
"transcript": "ENST00000204005.13",
"protein_id": "ENSP00000204005.10",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 1587,
"cds_start": 1390,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000204005.13"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1501T>C",
"hgvs_p": "p.Ser501Pro",
"transcript": "NM_001042544.1",
"protein_id": "NP_001036009.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1624,
"cds_start": 1501,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042544.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1390T>C",
"hgvs_p": "p.Ser464Pro",
"transcript": "NM_003573.2",
"protein_id": "NP_003564.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1587,
"cds_start": 1390,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003573.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000969228.1",
"protein_id": "ENSP00000639287.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1565,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969228.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000908835.1",
"protein_id": "ENSP00000578894.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1533,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908835.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000908836.1",
"protein_id": "ENSP00000578895.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1515,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908836.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000969223.1",
"protein_id": "ENSP00000639282.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1508,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969223.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000908839.1",
"protein_id": "ENSP00000578898.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1478,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908839.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000908838.1",
"protein_id": "ENSP00000578897.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1468,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908838.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000908834.1",
"protein_id": "ENSP00000578893.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1447,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908834.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000969230.1",
"protein_id": "ENSP00000639289.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1442,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969230.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.937T>C",
"hgvs_p": "p.Ser313Pro",
"transcript": "ENST00000908837.1",
"protein_id": "ENSP00000578896.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 1412,
"cds_start": 937,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908837.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000969221.1",
"protein_id": "ENSP00000639280.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1405,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969221.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000908840.1",
"protein_id": "ENSP00000578899.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1401,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908840.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000969220.1",
"protein_id": "ENSP00000639279.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1395,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969220.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000969224.1",
"protein_id": "ENSP00000639283.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1382,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969224.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000969222.1",
"protein_id": "ENSP00000639281.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1366,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969222.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000969226.1",
"protein_id": "ENSP00000639285.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1355,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969226.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000969225.1",
"protein_id": "ENSP00000639284.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1309,
"cds_start": 1300,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969225.1"
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{
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{
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.03058907389640808,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001042544.1",
"gene_symbol": "LTBP4",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1501T>C",
"hgvs_p": "p.Ser501Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}