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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: 8-103885846-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=103885846&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 103885846,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000696799.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "NM_001348484.3",
"protein_id": "NP_001335413.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1607,
"cds_start": 1379,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 7711,
"mane_select": "ENST00000696799.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "ENST00000696799.1",
"protein_id": "ENSP00000512879.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1607,
"cds_start": 1379,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 7711,
"mane_select": "NM_001348484.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"transcript": "ENST00000408894.7",
"protein_id": "ENSP00000386228.3",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 1356,
"cds_start": 671,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 6969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"transcript": "ENST00000262231.14",
"protein_id": "ENSP00000262231.10",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 1188,
"cds_start": 671,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"transcript": "ENST00000507740.6",
"protein_id": "ENSP00000423559.1",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 1163,
"cds_start": 671,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "n.671G>A",
"hgvs_p": null,
"transcript": "ENST00000515551.6",
"protein_id": "ENSP00000425205.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416Gln",
"transcript": "ENST00000666250.1",
"protein_id": "ENSP00000499454.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1592,
"cds_start": 1247,
"cds_end": null,
"cds_length": 4779,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 7564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "NM_001395654.1",
"protein_id": "NP_001382583.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1560,
"cds_start": 1379,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 9234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1259G>A",
"hgvs_p": "p.Arg420Gln",
"transcript": "NM_001395652.1",
"protein_id": "NP_001382581.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1558,
"cds_start": 1259,
"cds_end": null,
"cds_length": 4677,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 9228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416Gln",
"transcript": "NM_001348489.2",
"protein_id": "NP_001335418.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1549,
"cds_start": 1247,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 9201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416Gln",
"transcript": "ENST00000705945.1",
"protein_id": "ENSP00000516182.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1521,
"cds_start": 1247,
"cds_end": null,
"cds_length": 4566,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 7351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1259G>A",
"hgvs_p": "p.Arg420Gln",
"transcript": "NM_001348490.2",
"protein_id": "NP_001335419.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1520,
"cds_start": 1259,
"cds_end": null,
"cds_length": 4563,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 9114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "NM_001395653.1",
"protein_id": "NP_001382582.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1511,
"cds_start": 1379,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 9087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416Gln",
"transcript": "ENST00000705943.1",
"protein_id": "ENSP00000516180.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1483,
"cds_start": 1247,
"cds_end": null,
"cds_length": 4452,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416Gln",
"transcript": "ENST00000705942.1",
"protein_id": "ENSP00000516179.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1456,
"cds_start": 1247,
"cds_end": null,
"cds_length": 4371,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 7156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416Gln",
"transcript": "ENST00000705946.1",
"protein_id": "ENSP00000516183.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1445,
"cds_start": 1247,
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"cds_length": 4338,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 7123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1409G>A",
"hgvs_p": "p.Arg470Gln",
"transcript": "ENST00000668113.1",
"protein_id": "ENSP00000499719.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 1434,
"cds_start": 1409,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 7050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456Gln",
"transcript": "NM_001348491.2",
"protein_id": "NP_001335420.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 1420,
"cds_start": 1367,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 8814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1259G>A",
"hgvs_p": "p.Arg420Gln",
"transcript": "NM_001348486.2",
"protein_id": "NP_001335415.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1406,
"cds_start": 1259,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 1536,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416Gln",
"transcript": "NM_001348494.2",
"protein_id": "NP_001335423.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1402,
"cds_start": 1247,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 8760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416Gln",
"transcript": "ENST00000705947.1",
"protein_id": "ENSP00000516184.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1402,
"cds_start": 1247,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 6994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS2",
"gene_hgnc_id": 17283,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460Gln",
"transcript": "NM_001348488.2",
"protein_id": "NP_001335417.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1377,
"cds_start": 1379,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 8685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
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}
],
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}