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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: 1-11967042-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11967042&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11967042,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001316320.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1706T>C",
"hgvs_p": "p.Leu569Pro",
"transcript": "NM_000302.4",
"protein_id": "NP_000293.2",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 727,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000196061.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000302.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1706T>C",
"hgvs_p": "p.Leu569Pro",
"transcript": "ENST00000196061.5",
"protein_id": "ENSP00000196061.4",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 727,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000302.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000196061.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1850T>C",
"hgvs_p": "p.Leu617Pro",
"transcript": "ENST00000854019.1",
"protein_id": "ENSP00000524078.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 775,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854019.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1847T>C",
"hgvs_p": "p.Leu616Pro",
"transcript": "NM_001316320.2",
"protein_id": "NP_001303249.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 774,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316320.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1793T>C",
"hgvs_p": "p.Leu598Pro",
"transcript": "ENST00000854031.1",
"protein_id": "ENSP00000524090.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 756,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854031.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1793T>C",
"hgvs_p": "p.Leu598Pro",
"transcript": "ENST00000854033.1",
"protein_id": "ENSP00000524092.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 756,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854033.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1745T>C",
"hgvs_p": "p.Leu582Pro",
"transcript": "ENST00000960558.1",
"protein_id": "ENSP00000630617.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 740,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960558.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1733T>C",
"hgvs_p": "p.Leu578Pro",
"transcript": "ENST00000854021.1",
"protein_id": "ENSP00000524080.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 736,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854021.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1727T>C",
"hgvs_p": "p.Leu576Pro",
"transcript": "ENST00000934212.1",
"protein_id": "ENSP00000604271.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 734,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934212.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1703T>C",
"hgvs_p": "p.Leu568Pro",
"transcript": "ENST00000854027.1",
"protein_id": "ENSP00000524086.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 726,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854027.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1700T>C",
"hgvs_p": "p.Leu567Pro",
"transcript": "ENST00000854022.1",
"protein_id": "ENSP00000524081.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 725,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854022.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1706T>C",
"hgvs_p": "p.Leu569Pro",
"transcript": "ENST00000854026.1",
"protein_id": "ENSP00000524085.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 725,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854026.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1700T>C",
"hgvs_p": "p.Leu567Pro",
"transcript": "ENST00000854028.1",
"protein_id": "ENSP00000524087.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 725,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854028.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1673T>C",
"hgvs_p": "p.Leu558Pro",
"transcript": "ENST00000854032.1",
"protein_id": "ENSP00000524091.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 716,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854032.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Leu556Pro",
"transcript": "ENST00000934214.1",
"protein_id": "ENSP00000604273.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 714,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934214.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1661T>C",
"hgvs_p": "p.Leu554Pro",
"transcript": "ENST00000854029.1",
"protein_id": "ENSP00000524088.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 712,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854029.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1631T>C",
"hgvs_p": "p.Leu544Pro",
"transcript": "ENST00000854023.1",
"protein_id": "ENSP00000524082.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 702,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854023.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1604T>C",
"hgvs_p": "p.Leu535Pro",
"transcript": "ENST00000854030.1",
"protein_id": "ENSP00000524089.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 693,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854030.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1592T>C",
"hgvs_p": "p.Leu531Pro",
"transcript": "ENST00000934211.1",
"protein_id": "ENSP00000604270.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 689,
"cds_start": 1592,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934211.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1580T>C",
"hgvs_p": "p.Leu527Pro",
"transcript": "ENST00000854024.1",
"protein_id": "ENSP00000524083.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 685,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854024.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1706T>C",
"hgvs_p": "p.Leu569Pro",
"transcript": "ENST00000960559.1",
"protein_id": "ENSP00000630618.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 685,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960559.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1706T>C",
"hgvs_p": "p.Leu569Pro",
"transcript": "ENST00000854020.1",
"protein_id": "ENSP00000524079.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 678,
"cds_start": 1706,
"cds_end": null,
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{
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{
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{
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{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "PLOD1",
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"hgvs_c": "n.334T>C",
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"transcript": "ENST00000491536.5",
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"biotype": "pseudogene",
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}
],
"gene_symbol": "PLOD1",
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"dbsnp": "rs773547480",
"frequency_reference_population": 6.841115e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84112e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9535653591156006,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.943,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9961,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.965,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001316320.2",
"gene_symbol": "PLOD1",
"hgnc_id": 9081,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1847T>C",
"hgvs_p": "p.Leu616Pro"
}
],
"clinvar_disease": " kyphoscoliotic type 1,Ehlers-Danlos syndrome,Familial thoracic aortic aneurysm and aortic dissection",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Ehlers-Danlos syndrome, kyphoscoliotic type 1|Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}