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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: 5-72258113-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=72258113&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 72258113,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000261413.10",
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.282-19985T>C",
"hgvs_p": null,
"transcript": "NM_015084.3",
"protein_id": "NP_055899.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": "ENST00000261413.10",
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.282-19985T>C",
"hgvs_p": null,
"transcript": "ENST00000261413.10",
"protein_id": "ENSP00000261413.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": "NM_015084.3",
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "n.268-19985T>C",
"hgvs_p": null,
"transcript": "ENST00000515404.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1183,
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.282-19985T>C",
"hgvs_p": null,
"transcript": "ENST00000695404.1",
"protein_id": "ENSP00000511886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2562,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.282-19985T>C",
"hgvs_p": null,
"transcript": "ENST00000694998.2",
"protein_id": "ENSP00000511636.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2811,
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.282-16425T>C",
"hgvs_p": null,
"transcript": "NM_001286748.2",
"protein_id": "NP_001273677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": -4,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2812,
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.282-16425T>C",
"hgvs_p": null,
"transcript": "ENST00000513900.6",
"protein_id": "ENSP00000426941.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": -4,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
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"cdna_length": 2823,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.282-19985T>C",
"hgvs_p": null,
"transcript": "ENST00000694989.1",
"protein_id": "ENSP00000511631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7518,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.282-19985T>C",
"hgvs_p": null,
"transcript": "ENST00000694990.1",
"protein_id": "ENSP00000511632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7716,
"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,
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"exon_count": 11,
"intron_rank": 4,
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"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.243-19985T>C",
"hgvs_p": null,
"transcript": "ENST00000695403.1",
"protein_id": "ENSP00000511885.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 401,
"cds_start": -4,
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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,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "c.159-19985T>C",
"hgvs_p": null,
"transcript": "ENST00000694994.1",
"protein_id": "ENSP00000511933.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"gene_symbol": "MRPS27",
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},
{
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],
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"gene_symbol": "MRPS27",
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"hgvs_c": "c.159-19985T>C",
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},
{
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],
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"gene_symbol": "MRPS27",
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"hgvs_c": "c.114-19985T>C",
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"transcript": "NM_001286751.2",
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],
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},
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],
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"gene_symbol": "MRPS27",
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},
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],
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"intron_rank": 3,
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"gene_symbol": "MRPS27",
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"hgvs_c": "c.114-19985T>C",
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"transcript": "ENST00000508863.6",
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],
"exon_rank": null,
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},
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},
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],
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],
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"intron_rank": 4,
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"hgvs_c": "n.270-16425T>C",
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"transcript": "ENST00000522404.5",
"protein_id": "ENSP00000511938.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MRPS27",
"gene_hgnc_id": 14512,
"hgvs_c": "n.*308-19985T>C",
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"transcript": "ENST00000523654.6",
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},
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}
],
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}