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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: 6-72392740-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=72392740&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 72392740,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000521978.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.4548C>A",
"hgvs_p": "p.Phe1516Leu",
"transcript": "NM_014989.7",
"protein_id": "NP_055804.2",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4548,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 5022,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": "ENST00000521978.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.4548C>A",
"hgvs_p": "p.Phe1516Leu",
"transcript": "ENST00000521978.6",
"protein_id": "ENSP00000428417.1",
"transcript_support_level": 1,
"aa_start": 1516,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4548,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 5022,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": "NM_014989.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"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": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1752C>A",
"hgvs_p": "p.Phe584Leu",
"transcript": "ENST00000425662.6",
"protein_id": "ENSP00000411235.2",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 760,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.1692C>A",
"hgvs_p": "p.Phe564Leu",
"transcript": "ENST00000370420.8",
"protein_id": "ENSP00000359448.4",
"transcript_support_level": 1,
"aa_start": 564,
"aa_end": null,
"aa_length": 740,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.4095C>A",
"hgvs_p": "p.Phe1365Leu",
"transcript": "ENST00000264839.11",
"protein_id": "ENSP00000264839.7",
"transcript_support_level": 5,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1541,
"cds_start": 4095,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 7055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.4017C>A",
"hgvs_p": "p.Phe1339Leu",
"transcript": "ENST00000697193.1",
"protein_id": "ENSP00000513179.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1515,
"cds_start": 4017,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4491,
"cdna_end": null,
"cdna_length": 7458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.4017C>A",
"hgvs_p": "p.Phe1339Leu",
"transcript": "ENST00000491071.6",
"protein_id": "ENSP00000430101.1",
"transcript_support_level": 5,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4017,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 4338,
"cdna_end": null,
"cdna_length": 5047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3897C>A",
"hgvs_p": "p.Phe1299Leu",
"transcript": "ENST00000517960.5",
"protein_id": "ENSP00000429959.1",
"transcript_support_level": 5,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1475,
"cds_start": 3897,
"cds_end": null,
"cds_length": 4428,
"cdna_start": 3897,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3585C>A",
"hgvs_p": "p.Phe1195Leu",
"transcript": "ENST00000518273.5",
"protein_id": "ENSP00000430408.1",
"transcript_support_level": 5,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3585,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3585,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3498C>A",
"hgvs_p": "p.Phe1166Leu",
"transcript": "ENST00000520567.5",
"protein_id": "ENSP00000430502.1",
"transcript_support_level": 5,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3498,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3498,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.3345C>A",
"hgvs_p": "p.Phe1115Leu",
"transcript": "ENST00000522291.5",
"protein_id": "ENSP00000430932.1",
"transcript_support_level": 5,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3345,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 3345,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2700C>A",
"hgvs_p": "p.Phe900Leu",
"transcript": "NM_001350436.2",
"protein_id": "NP_001337365.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2700,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2930,
"cdna_end": null,
"cdna_length": 5892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2694C>A",
"hgvs_p": "p.Phe898Leu",
"transcript": "NM_001350446.2",
"protein_id": "NP_001337375.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2694,
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"cds_length": 3225,
"cdna_start": 2924,
"cdna_end": null,
"cdna_length": 5886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2691C>A",
"hgvs_p": "p.Phe897Leu",
"transcript": "NM_001350456.2",
"protein_id": "NP_001337385.1",
"transcript_support_level": null,
"aa_start": 897,
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"cds_start": 2691,
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"cds_length": 3222,
"cdna_start": 2921,
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"cdna_length": 5883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2622C>A",
"hgvs_p": "p.Phe874Leu",
"transcript": "NM_001350420.2",
"protein_id": "NP_001337349.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2622,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 2852,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2604C>A",
"hgvs_p": "p.Phe868Leu",
"transcript": "NM_001350431.2",
"protein_id": "NP_001337360.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
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"cds_start": 2604,
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"cdna_start": 2834,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2595C>A",
"hgvs_p": "p.Phe865Leu",
"transcript": "NM_001350433.2",
"protein_id": "NP_001337362.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2595,
"cds_end": null,
"cds_length": 3126,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"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": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2583C>A",
"hgvs_p": "p.Phe861Leu",
"transcript": "ENST00000517433.5",
"protein_id": "ENSP00000430359.1",
"transcript_support_level": 5,
"aa_start": 861,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2583,
"cds_end": null,
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"cdna_start": 2584,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2565C>A",
"hgvs_p": "p.Phe855Leu",
"transcript": "NM_001350415.2",
"protein_id": "NP_001337344.1",
"transcript_support_level": null,
"aa_start": 855,
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"cdna_start": 2795,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2553C>A",
"hgvs_p": "p.Phe851Leu",
"transcript": "NM_001350462.2",
"protein_id": "NP_001337391.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2553,
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"cdna_start": 2728,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2517C>A",
"hgvs_p": "p.Phe839Leu",
"transcript": "NM_001350458.2",
"protein_id": "NP_001337387.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2517,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2747,
"cdna_end": null,
"cdna_length": 5709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIMS1",
"gene_hgnc_id": 17282,
"hgvs_c": "c.2514C>A",
"hgvs_p": "p.Phe838Leu",
"transcript": "NM_001350416.2",
"protein_id": "NP_001337345.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2514,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2744,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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}