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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: 2-179116713-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=179116713&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 179116713,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_178123.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1602G>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "NM_178123.5",
"protein_id": "NP_835224.3",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 696,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428443.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178123.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1602G>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "ENST00000428443.8",
"protein_id": "ENSP00000415332.2",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 696,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178123.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428443.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1617G>T",
"hgvs_p": "p.Thr539Thr",
"transcript": "ENST00000949563.1",
"protein_id": "ENSP00000619622.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 701,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949563.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1602G>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "ENST00000854639.1",
"protein_id": "ENSP00000524698.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 696,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854639.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1602G>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "ENST00000854640.1",
"protein_id": "ENSP00000524699.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 696,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854640.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1602G>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "ENST00000949562.1",
"protein_id": "ENSP00000619621.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 696,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949562.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1602G>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "ENST00000949565.1",
"protein_id": "ENSP00000619624.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 696,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949565.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1602G>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "ENST00000949566.1",
"protein_id": "ENSP00000619625.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 696,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949566.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1602G>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "ENST00000949567.1",
"protein_id": "ENSP00000619626.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 696,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949567.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1593G>T",
"hgvs_p": "p.Thr531Thr",
"transcript": "ENST00000854636.1",
"protein_id": "ENSP00000524695.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 693,
"cds_start": 1593,
"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": "ENST00000854636.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1602G>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "ENST00000854637.1",
"protein_id": "ENSP00000524696.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 668,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854637.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1491G>T",
"hgvs_p": "p.Thr497Thr",
"transcript": "ENST00000949561.1",
"protein_id": "ENSP00000619620.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 659,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949561.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1488G>T",
"hgvs_p": "p.Thr496Thr",
"transcript": "ENST00000949564.1",
"protein_id": "ENSP00000619623.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 658,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949564.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1410G>T",
"hgvs_p": "p.Thr470Thr",
"transcript": "ENST00000854638.1",
"protein_id": "ENSP00000524697.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 632,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854638.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1368G>T",
"hgvs_p": "p.Thr456Thr",
"transcript": "ENST00000932265.1",
"protein_id": "ENSP00000602324.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 618,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932265.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1632G>T",
"hgvs_p": "p.Thr544Thr",
"transcript": "XM_047446273.1",
"protein_id": "XP_047302229.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 706,
"cds_start": 1632,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446273.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1356G>T",
"hgvs_p": "p.Thr452Thr",
"transcript": "XM_011512141.3",
"protein_id": "XP_011510443.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 614,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512141.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1143G>T",
"hgvs_p": "p.Thr381Thr",
"transcript": "XM_047446275.1",
"protein_id": "XP_047302231.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 543,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446275.1"
},
{
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1524+819G>T",
"hgvs_p": null,
"transcript": "ENST00000854635.1",
"protein_id": "ENSP00000524694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 655,
"cds_start": null,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854635.1"
},
{
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "c.1554+819G>T",
"hgvs_p": null,
"transcript": "XM_047446274.1",
"protein_id": "XP_047302230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 665,
"cds_start": null,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446274.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "n.*319G>T",
"hgvs_p": null,
"transcript": "ENST00000335289.5",
"protein_id": "ENSP00000334183.5",
"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": "nonsense_mediated_decay",
"feature": "ENST00000335289.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SESTD1",
"gene_hgnc_id": 18379,
"hgvs_c": "n.537G>T",
"hgvs_p": null,
"transcript": "ENST00000446758.5",
"protein_id": "ENSP00000410632.1",
"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,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000446758.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SESTD1",
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"hgvs_c": "n.*319G>T",
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"transcript": "ENST00000335289.5",
"protein_id": "ENSP00000334183.5",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000335289.5"
}
],
"gene_symbol": "SESTD1",
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"dbsnp": "rs76833045",
"frequency_reference_population": 0.0000030979356,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000136819,
"gnomad_genomes_af": 0.0000197125,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.2199999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.853,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_178123.5",
"gene_symbol": "SESTD1",
"hgnc_id": 18379,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1602G>T",
"hgvs_p": "p.Thr534Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}