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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: 2-135168739-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135168739&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135168739,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000264158.13",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2904T>C",
"hgvs_p": "p.Phe968Phe",
"transcript": "NM_012233.3",
"protein_id": "NP_036365.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 981,
"cds_start": 2904,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2920,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": "ENST00000264158.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2904T>C",
"hgvs_p": "p.Phe968Phe",
"transcript": "ENST00000264158.13",
"protein_id": "ENSP00000264158.8",
"transcript_support_level": 1,
"aa_start": 968,
"aa_end": null,
"aa_length": 981,
"cds_start": 2904,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2920,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": "NM_012233.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2925T>C",
"hgvs_p": "p.Phe975Phe",
"transcript": "ENST00000442034.5",
"protein_id": "ENSP00000411418.1",
"transcript_support_level": 1,
"aa_start": 975,
"aa_end": null,
"aa_length": 988,
"cds_start": 2925,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2935,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ZRANB3",
"gene_hgnc_id": 25249,
"hgvs_c": "n.1782-3585A>G",
"hgvs_p": null,
"transcript": "ENST00000412849.5",
"protein_id": null,
"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": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2925T>C",
"hgvs_p": "p.Phe975Phe",
"transcript": "NM_001172435.2",
"protein_id": "NP_001165906.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 988,
"cds_start": 2925,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2941,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.366T>C",
"hgvs_p": "p.Phe122Phe",
"transcript": "ENST00000688182.1",
"protein_id": "ENSP00000509324.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 135,
"cds_start": 366,
"cds_end": null,
"cds_length": 408,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2904T>C",
"hgvs_p": "p.Phe968Phe",
"transcript": "XM_011510823.4",
"protein_id": "XP_011509125.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2904,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2920,
"cdna_end": null,
"cdna_length": 3220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2904T>C",
"hgvs_p": "p.Phe968Phe",
"transcript": "XM_011510825.4",
"protein_id": "XP_011509127.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 979,
"cds_start": 2904,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2920,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.1758T>C",
"hgvs_p": "p.Phe586Phe",
"transcript": "XM_047443732.1",
"protein_id": "XP_047299688.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 642,
"cds_start": 1758,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 2292,
"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": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.2973T>C",
"hgvs_p": null,
"transcript": "ENST00000487003.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 3506,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.192T>C",
"hgvs_p": null,
"transcript": "ENST00000497080.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 446,
"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": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.2904T>C",
"hgvs_p": null,
"transcript": "ENST00000539493.3",
"protein_id": "ENSP00000444306.2",
"transcript_support_level": 5,
"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": 3614,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.3543T>C",
"hgvs_p": null,
"transcript": "ENST00000685652.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 5048,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.376T>C",
"hgvs_p": null,
"transcript": "ENST00000685874.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*2361T>C",
"hgvs_p": null,
"transcript": "ENST00000685967.1",
"protein_id": "ENSP00000508423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4344,
"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": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*2993T>C",
"hgvs_p": null,
"transcript": "ENST00000687199.1",
"protein_id": "ENSP00000510319.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.6086T>C",
"hgvs_p": null,
"transcript": "ENST00000688088.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.2577T>C",
"hgvs_p": null,
"transcript": "ENST00000689187.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3798,
"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": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*2582T>C",
"hgvs_p": null,
"transcript": "ENST00000690208.1",
"protein_id": "ENSP00000510746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*2548T>C",
"hgvs_p": null,
"transcript": "ENST00000691339.1",
"protein_id": "ENSP00000509953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*3003T>C",
"hgvs_p": null,
"transcript": "ENST00000691478.1",
"protein_id": "ENSP00000509081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4935,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.483T>C",
"hgvs_p": null,
"transcript": "ENST00000692993.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2435,
"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": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*727T>C",
"hgvs_p": null,
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{
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"BP7",
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"verdict": "Benign",
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{
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],
"clinvar_disease": "RAB3GAP1-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|not provided|RAB3GAP1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}