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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: 1-11958619-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11958619&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11958619,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001316320.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "NM_000302.4",
"protein_id": "NP_000293.2",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 727,
"cds_start": 947,
"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": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "ENST00000196061.5",
"protein_id": "ENSP00000196061.4",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 727,
"cds_start": 947,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1091A>C",
"hgvs_p": "p.Lys364Thr",
"transcript": "ENST00000854019.1",
"protein_id": "ENSP00000524078.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 775,
"cds_start": 1091,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1088A>C",
"hgvs_p": "p.Lys363Thr",
"transcript": "NM_001316320.2",
"protein_id": "NP_001303249.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 774,
"cds_start": 1088,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1034A>C",
"hgvs_p": "p.Lys345Thr",
"transcript": "ENST00000854031.1",
"protein_id": "ENSP00000524090.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 756,
"cds_start": 1034,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1034A>C",
"hgvs_p": "p.Lys345Thr",
"transcript": "ENST00000854033.1",
"protein_id": "ENSP00000524092.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 756,
"cds_start": 1034,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "ENST00000960558.1",
"protein_id": "ENSP00000630617.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 740,
"cds_start": 947,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.974A>C",
"hgvs_p": "p.Lys325Thr",
"transcript": "ENST00000854021.1",
"protein_id": "ENSP00000524080.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 736,
"cds_start": 974,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "ENST00000934212.1",
"protein_id": "ENSP00000604271.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 734,
"cds_start": 947,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.944A>C",
"hgvs_p": "p.Lys315Thr",
"transcript": "ENST00000854027.1",
"protein_id": "ENSP00000524086.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 726,
"cds_start": 944,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.941A>C",
"hgvs_p": "p.Lys314Thr",
"transcript": "ENST00000854022.1",
"protein_id": "ENSP00000524081.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 725,
"cds_start": 941,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "ENST00000854026.1",
"protein_id": "ENSP00000524085.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 725,
"cds_start": 947,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.941A>C",
"hgvs_p": "p.Lys314Thr",
"transcript": "ENST00000854028.1",
"protein_id": "ENSP00000524087.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 725,
"cds_start": 941,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.914A>C",
"hgvs_p": "p.Lys305Thr",
"transcript": "ENST00000854032.1",
"protein_id": "ENSP00000524091.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 716,
"cds_start": 914,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "ENST00000934214.1",
"protein_id": "ENSP00000604273.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 714,
"cds_start": 947,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.902A>C",
"hgvs_p": "p.Lys301Thr",
"transcript": "ENST00000854029.1",
"protein_id": "ENSP00000524088.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 712,
"cds_start": 902,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.872A>C",
"hgvs_p": "p.Lys291Thr",
"transcript": "ENST00000854023.1",
"protein_id": "ENSP00000524082.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 702,
"cds_start": 872,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.845A>C",
"hgvs_p": "p.Lys282Thr",
"transcript": "ENST00000854030.1",
"protein_id": "ENSP00000524089.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 693,
"cds_start": 845,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "ENST00000934210.1",
"protein_id": "ENSP00000604269.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 692,
"cds_start": 947,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934210.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "ENST00000934211.1",
"protein_id": "ENSP00000604270.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 689,
"cds_start": 947,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "ENST00000854024.1",
"protein_id": "ENSP00000524083.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 685,
"cds_start": 947,
"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": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Lys316Thr",
"transcript": "ENST00000960559.1",
"protein_id": "ENSP00000630618.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 685,
"cds_start": 947,
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"cds_length": 2058,
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{
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],
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{
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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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},
{
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],
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"biotype": "retained_intron",
"feature": "ENST00000465920.1"
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],
"gene_symbol": "PLOD1",
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"dbsnp": "rs141881216",
"frequency_reference_population": 0.000008054014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000273621,
"gnomad_genomes_af": 0.0000591226,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0750277042388916,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.156,
"revel_prediction": "Benign",
"alphamissense_score": 0.1046,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.185,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001316320.2",
"gene_symbol": "PLOD1",
"hgnc_id": 9081,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1088A>C",
"hgvs_p": "p.Lys363Thr"
}
],
"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
}