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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: 7-131504440-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=131504440&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 131504440,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001018111.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1548G>A",
"hgvs_p": "p.Met516Ile",
"transcript": "NM_001018111.3",
"protein_id": "NP_001018121.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 558,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378555.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018111.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1548G>A",
"hgvs_p": "p.Met516Ile",
"transcript": "ENST00000378555.8",
"protein_id": "ENSP00000367817.3",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 558,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018111.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378555.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1452G>A",
"hgvs_p": "p.Met484Ile",
"transcript": "ENST00000322985.9",
"protein_id": "ENSP00000319782.9",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 526,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322985.9"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1668G>A",
"hgvs_p": "p.Met556Ile",
"transcript": "ENST00000923671.1",
"protein_id": "ENSP00000593730.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 598,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923671.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Met530Ile",
"transcript": "ENST00000923670.1",
"protein_id": "ENSP00000593729.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 572,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923670.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1572G>A",
"hgvs_p": "p.Met524Ile",
"transcript": "ENST00000875720.1",
"protein_id": "ENSP00000545779.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 566,
"cds_start": 1572,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875720.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1569G>A",
"hgvs_p": "p.Met523Ile",
"transcript": "ENST00000875721.1",
"protein_id": "ENSP00000545780.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 565,
"cds_start": 1569,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875721.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1545G>A",
"hgvs_p": "p.Met515Ile",
"transcript": "ENST00000875716.1",
"protein_id": "ENSP00000545775.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 557,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875716.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1545G>A",
"hgvs_p": "p.Met515Ile",
"transcript": "ENST00000875719.1",
"protein_id": "ENSP00000545778.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 557,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875719.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1542G>A",
"hgvs_p": "p.Met514Ile",
"transcript": "ENST00000875717.1",
"protein_id": "ENSP00000545776.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 556,
"cds_start": 1542,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875717.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1494G>A",
"hgvs_p": "p.Met498Ile",
"transcript": "ENST00000923667.1",
"protein_id": "ENSP00000593726.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 540,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923667.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1491G>A",
"hgvs_p": "p.Met497Ile",
"transcript": "ENST00000923669.1",
"protein_id": "ENSP00000593728.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 539,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923669.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1464G>A",
"hgvs_p": "p.Met488Ile",
"transcript": "ENST00000923675.1",
"protein_id": "ENSP00000593734.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 530,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923675.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1452G>A",
"hgvs_p": "p.Met484Ile",
"transcript": "NM_005397.4",
"protein_id": "NP_005388.2",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 526,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005397.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1449G>A",
"hgvs_p": "p.Met483Ile",
"transcript": "ENST00000875715.1",
"protein_id": "ENSP00000545774.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 525,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875715.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1374G>A",
"hgvs_p": "p.Met458Ile",
"transcript": "ENST00000923672.1",
"protein_id": "ENSP00000593731.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 500,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923672.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Met282Ile",
"transcript": "ENST00000923674.1",
"protein_id": "ENSP00000593733.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 324,
"cds_start": 846,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923674.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile",
"transcript": "ENST00000923673.1",
"protein_id": "ENSP00000593732.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 175,
"cds_start": 399,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1480-22G>A",
"hgvs_p": null,
"transcript": "ENST00000875718.1",
"protein_id": "ENSP00000545777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 528,
"cds_start": null,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875718.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1384-22G>A",
"hgvs_p": null,
"transcript": "ENST00000923668.1",
"protein_id": "ENSP00000593727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "n.*813G>A",
"hgvs_p": null,
"transcript": "ENST00000446198.5",
"protein_id": "ENSP00000390152.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000446198.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "n.307G>A",
"hgvs_p": null,
"transcript": "ENST00000484346.1",
"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": "retained_intron",
"feature": "ENST00000484346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "n.*813G>A",
"hgvs_p": null,
"transcript": "ENST00000446198.5",
"protein_id": "ENSP00000390152.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000446198.5"
}
],
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"dbsnp": "rs141737704",
"frequency_reference_population": 0.00003717366,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000239427,
"gnomad_genomes_af": 0.000164234,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7034056782722473,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001018111.3",
"gene_symbol": "PODXL",
"hgnc_id": 9171,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1548G>A",
"hgvs_p": "p.Met516Ile"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}