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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: 1-43712399-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43712399&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43712399,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001350619.2",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "NM_006279.5",
"protein_id": "NP_006270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000347631.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006279.5"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000347631.8",
"protein_id": "ENSP00000317192.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006279.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347631.8"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000372372.7",
"protein_id": "ENSP00000361447.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 413,
"cds_start": null,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372372.7"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000361746.9",
"protein_id": "ENSP00000354657.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361746.9"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000361392.9",
"protein_id": "ENSP00000355341.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361392.9"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000361400.9",
"protein_id": "ENSP00000354748.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361400.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "n.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000533997.6",
"protein_id": "ENSP00000432071.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533997.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284989",
"gene_hgnc_id": null,
"hgvs_c": "n.*1292+8287T>C",
"hgvs_p": null,
"transcript": "ENST00000645057.1",
"protein_id": "ENSP00000494063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645057.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000857189.1",
"protein_id": "ENSP00000527248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857189.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000645034.1",
"protein_id": "ENSP00000496350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": null,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645034.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "NM_001350619.2",
"protein_id": "NP_001337548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350619.2"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000642331.1",
"protein_id": "ENSP00000493823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
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"cds_length": 1350,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642331.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "NM_174963.5",
"protein_id": "NP_777623.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": null,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174963.5"
},
{
"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": 13,
"intron_rank": 1,
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"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000262915.8",
"protein_id": "ENSP00000262915.3",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000262915.8"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "NM_001350620.2",
"protein_id": "NP_001337549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350620.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000643252.1",
"protein_id": "ENSP00000495333.1",
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"biotype": "protein_coding",
"feature": "ENST00000643252.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "NM_174968.5",
"protein_id": "NP_777628.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174968.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000351035.8",
"protein_id": "ENSP00000316999.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000351035.8"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+2873T>C",
"hgvs_p": null,
"transcript": "ENST00000961661.1",
"protein_id": "ENSP00000631720.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000961663.1",
"protein_id": "ENSP00000631722.1",
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "NM_001410781.1",
"protein_id": "NP_001397710.1",
"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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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410781.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.-31+4706T>C",
"hgvs_p": null,
"transcript": "ENST00000961660.1",
"protein_id": "ENSP00000631719.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": null,
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"cds_length": 1251,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961660.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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{
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"verdict": "Likely_benign",
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{
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],
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"custom_annotations": null
}
],
"message": null
}