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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: 18-48853255-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=48853255&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 48853255,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000256413.8",
"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": 10,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.1528-4333C>T",
"hgvs_p": null,
"transcript": "NM_014772.3",
"protein_id": "NP_055587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": -4,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": "ENST00000256413.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.1528-4333C>T",
"hgvs_p": null,
"transcript": "ENST00000256413.8",
"protein_id": "ENSP00000256413.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": -4,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": "NM_014772.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.1534-4333C>T",
"hgvs_p": null,
"transcript": "ENST00000382998.8",
"protein_id": "ENSP00000372459.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.1534-4333C>T",
"hgvs_p": null,
"transcript": "NM_001142397.2",
"protein_id": "NP_001135869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "n.1665-4333C>T",
"hgvs_p": null,
"transcript": "ENST00000587860.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.1582-4333C>T",
"hgvs_p": null,
"transcript": "XM_005258392.5",
"protein_id": "XP_005258449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
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"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.1582-4333C>T",
"hgvs_p": null,
"transcript": "XM_006722583.4",
"protein_id": "XP_006722646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.1582-4333C>T",
"hgvs_p": null,
"transcript": "XM_017026100.2",
"protein_id": "XP_016881589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.1582-4333C>T",
"hgvs_p": null,
"transcript": "XM_017026101.2",
"protein_id": "XP_016881590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"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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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CTIF",
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"hgvs_c": "c.1582-4333C>T",
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"transcript": "XM_047437960.1",
"protein_id": "XP_047293916.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CTIF",
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"hgvs_c": "c.1582-4333C>T",
"hgvs_p": null,
"transcript": "XM_047437961.1",
"protein_id": "XP_047293917.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "CTIF",
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],
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"gene_symbol": "CTIF",
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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": "CTIF",
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"hgvs_c": "c.1534-4333C>T",
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"transcript": "XM_017026102.2",
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},
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],
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"gene_symbol": "CTIF",
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"hgvs_c": "c.1528-4333C>T",
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"transcript": "XM_011526279.3",
"protein_id": "XP_011524581.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "CTIF",
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"hgvs_c": "c.1528-4333C>T",
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"transcript": "XM_047437968.1",
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}
],
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}