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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: 17-20119786-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=20119786&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 20119786,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000395527.9",
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "NM_001243439.2",
"protein_id": "NP_001230368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8255,
"mane_select": "ENST00000395527.9",
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "ENST00000395527.9",
"protein_id": "ENSP00000378898.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8255,
"mane_select": "NM_001243439.2",
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "ENST00000261503.9",
"protein_id": "ENSP00000261503.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3948,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "ENST00000395529.7",
"protein_id": "ENSP00000378900.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": -4,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4971,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "NM_001033553.3",
"protein_id": "NP_001028725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8219,
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "NM_001386083.2",
"protein_id": "NP_001373012.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8512,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "ENST00000677914.1",
"protein_id": "ENSP00000503971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4060,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "ENST00000679058.1",
"protein_id": "ENSP00000502924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4035,
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "ENST00000679255.1",
"protein_id": "ENSP00000504211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
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"cds_length": 3207,
"cdna_start": null,
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"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
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"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "ENST00000678321.1",
"protein_id": "ENSP00000503822.1",
"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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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
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"gene_symbol": "SPECC1",
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"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "ENST00000681564.1",
"protein_id": "ENSP00000506710.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "SPECC1",
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"transcript": "NM_001386082.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "SPECC1",
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"hgvs_c": "c.283+9224G>A",
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"transcript": "ENST00000678019.1",
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},
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],
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"gene_symbol": "SPECC1",
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"hgvs_c": "c.283+9224G>A",
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"transcript": "NM_001386081.1",
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},
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],
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},
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],
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"gene_symbol": "SPECC1",
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"gene_symbol": "SPECC1",
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},
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],
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"gene_symbol": "SPECC1",
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"hgvs_c": "c.283+9224G>A",
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"transcript": "ENST00000681875.1",
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],
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],
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"intron_rank": 5,
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"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.307+9224G>A",
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"transcript": "NM_001386084.1",
"protein_id": "NP_001373013.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SPECC1",
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"hgvs_c": "c.283+9224G>A",
"hgvs_p": null,
"transcript": "NM_152904.4",
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