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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: 1-11787392-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11787392&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11787392,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000688073.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3572G>T",
"hgvs_p": "p.Arg1191Leu",
"transcript": "NM_001010881.2",
"protein_id": "NP_001010881.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1449,
"cds_start": 3572,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": "ENST00000688073.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3572G>T",
"hgvs_p": "p.Arg1191Leu",
"transcript": "ENST00000688073.1",
"protein_id": "ENSP00000510540.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1449,
"cds_start": 3572,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": "NM_001010881.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.1070G>T",
"hgvs_p": "p.Arg357Leu",
"transcript": "ENST00000444493.5",
"protein_id": "ENSP00000398213.1",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 615,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "ENST00000449278.1",
"protein_id": "ENSP00000399272.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 531,
"cds_start": 899,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*3288C>A",
"hgvs_p": null,
"transcript": "NM_005957.5",
"protein_id": "NP_005948.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7018,
"mane_select": "ENST00000376590.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*3288C>A",
"hgvs_p": null,
"transcript": "ENST00000376590.9",
"protein_id": "ENSP00000365775.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7018,
"mane_select": "NM_005957.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFR",
"gene_hgnc_id": 7436,
"hgvs_c": "c.*3288C>A",
"hgvs_p": null,
"transcript": "ENST00000376592.6",
"protein_id": "ENSP00000365777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3086G>T",
"hgvs_p": "p.Arg1029Leu",
"transcript": "ENST00000433342.6",
"protein_id": "ENSP00000414909.3",
"transcript_support_level": 5,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3644,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.1721G>T",
"hgvs_p": "p.Arg574Leu",
"transcript": "ENST00000312793.9",
"protein_id": "ENSP00000317749.5",
"transcript_support_level": 2,
"aa_start": 574,
"aa_end": null,
"aa_length": 827,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_024446506.2",
"protein_id": "XP_024302274.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1534,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 3846,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_024446507.2",
"protein_id": "XP_024302275.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1534,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 3984,
"cdna_end": null,
"cdna_length": 5424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_024446508.2",
"protein_id": "XP_024302276.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1534,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 4001,
"cdna_end": null,
"cdna_length": 5441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_024446509.2",
"protein_id": "XP_024302277.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1534,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 3837,
"cdna_end": null,
"cdna_length": 5277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3653G>T",
"hgvs_p": "p.Arg1218Leu",
"transcript": "XM_024446512.2",
"protein_id": "XP_024302280.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3653,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 3792,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_011541272.4",
"protein_id": "XP_011539574.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1494,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 3846,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3572G>T",
"hgvs_p": "p.Arg1191Leu",
"transcript": "XM_024446514.2",
"protein_id": "XP_024302282.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1489,
"cds_start": 3572,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 5195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3572G>T",
"hgvs_p": "p.Arg1191Leu",
"transcript": "XM_024446515.2",
"protein_id": "XP_024302283.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1489,
"cds_start": 3572,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 3868,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3572G>T",
"hgvs_p": "p.Arg1191Leu",
"transcript": "XM_024446517.2",
"protein_id": "XP_024302285.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1489,
"cds_start": 3572,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 3665,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_011541276.4",
"protein_id": "XP_011539578.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1467,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4404,
"cdna_start": 3846,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_011541277.4",
"protein_id": "XP_011539579.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 3846,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.3707G>T",
"hgvs_p": "p.Arg1236Leu",
"transcript": "XM_011541278.3",
"protein_id": "XP_011539580.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3846,
"cdna_end": null,
"cdna_length": 4668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf167",
"gene_hgnc_id": 25262,
"hgvs_c": "c.1988G>T",
"hgvs_p": "p.Arg663Leu",
"transcript": "XM_024446518.2",
"protein_id": "XP_024302286.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 961,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
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}