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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: 6-160702321-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=160702321&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 160702321,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000301.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "NM_000301.5",
"protein_id": "NP_000292.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 810,
"cds_start": 17,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308192.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000301.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000308192.14",
"protein_id": "ENSP00000308938.9",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 810,
"cds_start": 17,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000301.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308192.14"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000366924.6",
"protein_id": "ENSP00000355891.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 136,
"cds_start": 17,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366924.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872438.1",
"protein_id": "ENSP00000542497.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 917,
"cds_start": 17,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872438.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872435.1",
"protein_id": "ENSP00000542494.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 846,
"cds_start": 17,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872435.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000418964.2",
"protein_id": "ENSP00000389424.2",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 827,
"cds_start": 17,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418964.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872429.1",
"protein_id": "ENSP00000542488.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 820,
"cds_start": 17,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872429.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872440.1",
"protein_id": "ENSP00000542499.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 820,
"cds_start": 17,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872440.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000957675.1",
"protein_id": "ENSP00000627734.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 809,
"cds_start": 17,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957675.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872434.1",
"protein_id": "ENSP00000542493.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 807,
"cds_start": 17,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872434.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872431.1",
"protein_id": "ENSP00000542490.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 806,
"cds_start": 17,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872431.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872439.1",
"protein_id": "ENSP00000542498.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 804,
"cds_start": 17,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872439.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872432.1",
"protein_id": "ENSP00000542491.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 785,
"cds_start": 17,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872432.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872428.1",
"protein_id": "ENSP00000542487.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 763,
"cds_start": 17,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872428.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872433.1",
"protein_id": "ENSP00000542492.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 738,
"cds_start": 17,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872433.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872436.1",
"protein_id": "ENSP00000542495.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 730,
"cds_start": 17,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872436.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872437.1",
"protein_id": "ENSP00000542496.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 729,
"cds_start": 17,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872437.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000872430.1",
"protein_id": "ENSP00000542489.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 662,
"cds_start": 17,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872430.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "ENST00000297289.9",
"protein_id": "ENSP00000516619.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 461,
"cds_start": 17,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297289.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala",
"transcript": "NM_001168338.1",
"protein_id": "NP_001161810.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 136,
"cds_start": 17,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "n.54T>C",
"hgvs_p": null,
"transcript": "ENST00000462918.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000462918.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "n.30T>C",
"hgvs_p": null,
"transcript": "ENST00000483038.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000483038.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "n.17T>C",
"hgvs_p": null,
"transcript": "ENST00000706906.1",
"protein_id": "ENSP00000516618.1",
"transcript_support_level": null,
"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": "ENST00000706906.1"
}
],
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"dbsnp": "rs764121149",
"frequency_reference_population": 0.000042863798,
"hom_count_reference_population": 0,
"allele_count_reference_population": 69,
"gnomad_exomes_af": 0.0000452813,
"gnomad_genomes_af": 0.0000197117,
"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13599663972854614,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
"alphamissense_score": 0.0757,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.943,
"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_000301.5",
"gene_symbol": "PLG",
"hgnc_id": 9071,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Val6Ala"
}
],
"clinvar_disease": " 4, hereditary, type I,Angioedema,Inborn genetic diseases,Plasminogen deficiency,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Plasminogen deficiency, type I;Angioedema, hereditary, 4|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}