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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: 2-227355756-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227355756&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 227355756,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_020194.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247*",
"transcript": "NM_001277062.2",
"protein_id": "NP_001263991.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 291,
"cds_start": 739,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304593.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277062.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247*",
"transcript": "ENST00000304593.14",
"protein_id": "ENSP00000304898.10",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 291,
"cds_start": 739,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001277062.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304593.14"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199*",
"transcript": "ENST00000337110.11",
"protein_id": "ENSP00000338412.7",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 243,
"cds_start": 595,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337110.11"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298*",
"transcript": "NM_001277061.2",
"protein_id": "NP_001263990.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 342,
"cds_start": 892,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277061.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298*",
"transcript": "NM_020194.5",
"protein_id": "NP_064579.3",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 342,
"cds_start": 892,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020194.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298*",
"transcript": "ENST00000353339.8",
"protein_id": "ENSP00000302037.4",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 342,
"cds_start": 892,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353339.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283*",
"transcript": "ENST00000868604.1",
"protein_id": "ENSP00000538663.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 327,
"cds_start": 847,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868604.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283*",
"transcript": "ENST00000966776.1",
"protein_id": "ENSP00000636835.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 327,
"cds_start": 847,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966776.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283*",
"transcript": "ENST00000966786.1",
"protein_id": "ENSP00000636845.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 327,
"cds_start": 847,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966786.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"transcript": "ENST00000707109.1",
"protein_id": "ENSP00000516738.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 316,
"cds_start": 814,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707109.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"transcript": "ENST00000868601.1",
"protein_id": "ENSP00000538660.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 316,
"cds_start": 814,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868601.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"transcript": "ENST00000868611.1",
"protein_id": "ENSP00000538670.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 316,
"cds_start": 814,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868611.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"transcript": "ENST00000868618.1",
"protein_id": "ENSP00000538677.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 316,
"cds_start": 814,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868618.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"transcript": "ENST00000868627.1",
"protein_id": "ENSP00000538686.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 316,
"cds_start": 814,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868627.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"transcript": "ENST00000935710.1",
"protein_id": "ENSP00000605769.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 316,
"cds_start": 814,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935710.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"transcript": "ENST00000966779.1",
"protein_id": "ENSP00000636838.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 316,
"cds_start": 814,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966779.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265*",
"transcript": "ENST00000868630.1",
"protein_id": "ENSP00000538689.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 309,
"cds_start": 793,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868630.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*",
"transcript": "ENST00000966782.1",
"protein_id": "ENSP00000636841.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 307,
"cds_start": 787,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966782.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258*",
"transcript": "ENST00000707111.1",
"protein_id": "ENSP00000516740.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 302,
"cds_start": 772,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707111.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258*",
"transcript": "ENST00000868628.1",
"protein_id": "ENSP00000538687.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 302,
"cds_start": 772,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868628.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258*",
"transcript": "ENST00000966768.1",
"protein_id": "ENSP00000636827.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 302,
"cds_start": 772,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966768.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFF",
"gene_hgnc_id": 24858,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256*",
"transcript": "ENST00000707110.1",
"protein_id": "ENSP00000516739.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 300,
"cds_start": 766,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707110.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
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}
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}