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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: 17-2377640-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2377640&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2377640,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_014853.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2803-217T>A",
"hgvs_p": null,
"transcript": "NM_014853.3",
"protein_id": "NP_055668.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1051,
"cds_start": null,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268989.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014853.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2803-217T>A",
"hgvs_p": null,
"transcript": "ENST00000268989.8",
"protein_id": "ENSP00000268989.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1051,
"cds_start": null,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014853.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268989.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2668-217T>A",
"hgvs_p": null,
"transcript": "ENST00000426855.6",
"protein_id": "ENSP00000415107.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": null,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426855.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2806-217T>A",
"hgvs_p": null,
"transcript": "ENST00000968832.1",
"protein_id": "ENSP00000638891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1052,
"cds_start": null,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2779-217T>A",
"hgvs_p": null,
"transcript": "ENST00000968833.1",
"protein_id": "ENSP00000638892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1043,
"cds_start": null,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968833.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2734-217T>A",
"hgvs_p": null,
"transcript": "ENST00000930414.1",
"protein_id": "ENSP00000600473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": null,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2668-217T>A",
"hgvs_p": null,
"transcript": "NM_001098509.2",
"protein_id": "NP_001091979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": null,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098509.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2668-217T>A",
"hgvs_p": null,
"transcript": "NM_001346700.2",
"protein_id": "NP_001333629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": null,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346700.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2668-217T>A",
"hgvs_p": null,
"transcript": "ENST00000574563.5",
"protein_id": "ENSP00000459126.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": null,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574563.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2356-217T>A",
"hgvs_p": null,
"transcript": "ENST00000930413.1",
"protein_id": "ENSP00000600472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": null,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930413.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2941-217T>A",
"hgvs_p": null,
"transcript": "XM_011524101.4",
"protein_id": "XP_011522403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1103,
"cds_start": null,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524101.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2941-217T>A",
"hgvs_p": null,
"transcript": "XM_011524102.4",
"protein_id": "XP_011522404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": null,
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"cds_length": 3294,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524102.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2941-217T>A",
"hgvs_p": null,
"transcript": "XM_011524103.4",
"protein_id": "XP_011522405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1092,
"cds_start": null,
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"cds_length": 3279,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524103.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2893-217T>A",
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"transcript": "XM_011524104.3",
"protein_id": "XP_011522406.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_011524104.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2806-217T>A",
"hgvs_p": null,
"transcript": "XM_011524105.4",
"protein_id": "XP_011522407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1058,
"cds_start": null,
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"cds_length": 3177,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524105.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2803-217T>A",
"hgvs_p": null,
"transcript": "XM_011524106.2",
"protein_id": "XP_011522408.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011524106.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2806-217T>A",
"hgvs_p": null,
"transcript": "XM_017025474.3",
"protein_id": "XP_016880963.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1052,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025474.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2806-217T>A",
"hgvs_p": null,
"transcript": "XM_017025475.3",
"protein_id": "XP_016880964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_017025475.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2758-217T>A",
"hgvs_p": null,
"transcript": "XM_011524107.4",
"protein_id": "XP_011522409.1",
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"feature": "XM_011524107.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2758-217T>A",
"hgvs_p": null,
"transcript": "XM_047437209.1",
"protein_id": "XP_047293165.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2668-217T>A",
"hgvs_p": null,
"transcript": "XM_011524108.2",
"protein_id": "XP_011522410.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524108.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SGSM2",
"gene_hgnc_id": 29026,
"hgvs_c": "c.2668-217T>A",
"hgvs_p": null,
"transcript": "XM_047437210.1",
"protein_id": "XP_047293166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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],
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{
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"verdict": "Likely_benign",
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{
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],
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}
],
"message": null
}