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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: 19-53247262-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53247262&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 53247262,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000598513.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_182609.4",
"protein_id": "NP_872415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": "ENST00000598513.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "ENST00000598513.6",
"protein_id": "ENSP00000469391.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": "NM_182609.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "ENST00000594517.5",
"protein_id": "ENSP00000472416.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "ENST00000598806.5",
"protein_id": "ENSP00000471071.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "n.393C>T",
"hgvs_p": null,
"transcript": "NR_169728.1",
"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": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001317998.2",
"protein_id": "NP_001304927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001385608.1",
"protein_id": "NP_001372537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "ENST00000333952.8",
"protein_id": "ENSP00000334394.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001385609.1",
"protein_id": "NP_001372538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": -4,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001385610.1",
"protein_id": "NP_001372539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": -4,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001385611.1",
"protein_id": "NP_001372540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
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"transcript": "NM_001385612.1",
"protein_id": "NP_001372541.1",
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "ENST00000594681.5",
"protein_id": "ENSP00000472132.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001385613.1",
"protein_id": "NP_001372542.1",
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},
{
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"intron_variant"
],
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"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001385614.1",
"protein_id": "NP_001372543.1",
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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,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001385615.1",
"protein_id": "NP_001372544.1",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "ENST00000599012.5",
"protein_id": "ENSP00000469701.1",
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001385616.1",
"protein_id": "NP_001372545.1",
"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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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001385617.1",
"protein_id": "NP_001372546.1",
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},
{
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"strand": false,
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],
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"intron_rank": 3,
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"gene_symbol": "ZNF677",
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"hgvs_c": "c.16-3365C>T",
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"transcript": "ENST00000601413.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
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"transcript": "ENST00000601828.5",
"protein_id": "ENSP00000471266.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF677",
"gene_hgnc_id": 28730,
"hgvs_c": "c.16-3365C>T",
"hgvs_p": null,
"transcript": "NM_001385618.1",
"protein_id": "NP_001372547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": -4,
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"cdna_start": null,
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"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291131",
"gene_hgnc_id": null,
"hgvs_c": "n.481-10182G>A",
"hgvs_p": null,
"transcript": "ENST00000795206.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
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"verdict": "Benign",
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{
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],
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}
],
"message": null
}