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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: 8-70127445-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=70127445&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 70127445,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000452400.7",
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3682-398C>T",
"hgvs_p": null,
"transcript": "NM_006540.4",
"protein_id": "NP_006531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": -4,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": "ENST00000452400.7",
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3682-398C>T",
"hgvs_p": null,
"transcript": "ENST00000452400.7",
"protein_id": "ENSP00000399968.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": -4,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": "NM_006540.4",
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3682-398C>T",
"hgvs_p": null,
"transcript": "NM_001321703.2",
"protein_id": "NP_001308632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": -4,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8513,
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3682-398C>T",
"hgvs_p": null,
"transcript": "NM_001321707.2",
"protein_id": "NP_001308636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": -4,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8378,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3475-398C>T",
"hgvs_p": null,
"transcript": "NM_001321711.2",
"protein_id": "NP_001308640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": -4,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8223,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3475-398C>T",
"hgvs_p": null,
"transcript": "NM_001321712.2",
"protein_id": "NP_001308641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": -4,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8307,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3220-398C>T",
"hgvs_p": null,
"transcript": "NM_001321713.2",
"protein_id": "NP_001308642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1310,
"cds_start": -4,
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"cds_length": 3933,
"cdna_start": null,
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"cdna_length": 8410,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.1057-398C>T",
"hgvs_p": null,
"transcript": "ENST00000518363.2",
"protein_id": "ENSP00000429132.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "n.*639-398C>T",
"hgvs_p": null,
"transcript": "ENST00000518287.6",
"protein_id": "ENSP00000430148.2",
"transcript_support_level": 5,
"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": 6087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "n.125-398C>T",
"hgvs_p": null,
"transcript": "ENST00000521239.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3682-398C>T",
"hgvs_p": null,
"transcript": "XM_017012961.3",
"protein_id": "XP_016868450.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "NCOA2",
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},
{
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],
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"gene_symbol": "NCOA2",
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"hgvs_c": "c.3682-398C>T",
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},
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],
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"gene_symbol": "NCOA2",
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],
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},
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],
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},
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],
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"gene_symbol": "NCOA2",
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"hgvs_c": "c.3682-398C>T",
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],
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"gene_symbol": "NCOA2",
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"hgvs_c": "c.3682-398C>T",
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},
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],
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}