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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: 1-75789959-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=75789959&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 75789959,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004582.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.317C>G",
"hgvs_p": "p.Thr106Arg",
"transcript": "NM_004582.4",
"protein_id": "NP_004573.2",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 331,
"cds_start": 317,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319942.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004582.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.317C>G",
"hgvs_p": "p.Thr106Arg",
"transcript": "ENST00000319942.8",
"protein_id": "ENSP00000317473.3",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 331,
"cds_start": 317,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004582.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319942.8"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Thr108Arg",
"transcript": "ENST00000935155.1",
"protein_id": "ENSP00000605214.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 333,
"cds_start": 323,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935155.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.317C>G",
"hgvs_p": "p.Thr106Arg",
"transcript": "ENST00000935145.1",
"protein_id": "ENSP00000605204.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 330,
"cds_start": 317,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935145.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Thr102Arg",
"transcript": "ENST00000935144.1",
"protein_id": "ENSP00000605203.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 327,
"cds_start": 305,
"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": "ENST00000935144.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.209C>G",
"hgvs_p": "p.Thr70Arg",
"transcript": "ENST00000872421.1",
"protein_id": "ENSP00000542480.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 295,
"cds_start": 209,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872421.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.317C>G",
"hgvs_p": "p.Thr106Arg",
"transcript": "ENST00000935146.1",
"protein_id": "ENSP00000605205.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 289,
"cds_start": 317,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935146.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.317C>G",
"hgvs_p": "p.Thr106Arg",
"transcript": "ENST00000935149.1",
"protein_id": "ENSP00000605208.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 281,
"cds_start": 317,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935149.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.317C>G",
"hgvs_p": "p.Thr106Arg",
"transcript": "ENST00000964019.1",
"protein_id": "ENSP00000634078.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 271,
"cds_start": 317,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964019.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.119C>G",
"hgvs_p": "p.Thr40Arg",
"transcript": "ENST00000872422.1",
"protein_id": "ENSP00000542481.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 265,
"cds_start": 119,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872422.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Thr4Arg",
"transcript": "ENST00000935148.1",
"protein_id": "ENSP00000605207.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 229,
"cds_start": 11,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935148.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.119C>G",
"hgvs_p": "p.Thr40Arg",
"transcript": "ENST00000935147.1",
"protein_id": "ENSP00000605206.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 223,
"cds_start": 119,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935147.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.317C>G",
"hgvs_p": "p.Thr106Arg",
"transcript": "ENST00000370826.3",
"protein_id": "ENSP00000359862.3",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 152,
"cds_start": 317,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370826.3"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.310-65C>G",
"hgvs_p": null,
"transcript": "ENST00000935156.1",
"protein_id": "ENSP00000605215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"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": "ENST00000935156.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.309+603C>G",
"hgvs_p": null,
"transcript": "ENST00000935154.1",
"protein_id": "ENSP00000605213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935154.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.309+603C>G",
"hgvs_p": null,
"transcript": "ENST00000935150.1",
"protein_id": "ENSP00000605209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935150.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.309+603C>G",
"hgvs_p": null,
"transcript": "ENST00000935153.1",
"protein_id": "ENSP00000605212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935153.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.309+603C>G",
"hgvs_p": null,
"transcript": "ENST00000935157.1",
"protein_id": "ENSP00000605216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935157.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.111+2355C>G",
"hgvs_p": null,
"transcript": "ENST00000935151.1",
"protein_id": "ENSP00000605210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": null,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935151.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "c.111+2355C>G",
"hgvs_p": null,
"transcript": "ENST00000935152.1",
"protein_id": "ENSP00000605211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "n.910C>G",
"hgvs_p": null,
"transcript": "ENST00000461653.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461653.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTB",
"gene_hgnc_id": 9796,
"hgvs_c": "n.532C>G",
"hgvs_p": null,
"transcript": "ENST00000462042.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462042.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
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"verdict": "Uncertain_significance",
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}
],
"message": null
}