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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: 9-132896663-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132896663&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132896663,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000368.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "NM_000368.5",
"protein_id": "NP_000359.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298552.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000368.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "ENST00000298552.9",
"protein_id": "ENSP00000298552.3",
"transcript_support_level": 1,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000368.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298552.9"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "ENST00000490179.4",
"protein_id": "ENSP00000495533.2",
"transcript_support_level": 3,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490179.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "NM_001406592.1",
"protein_id": "NP_001393521.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406592.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "NM_001406593.1",
"protein_id": "NP_001393522.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406593.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "NM_001406594.1",
"protein_id": "NP_001393523.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406594.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "NM_001406595.1",
"protein_id": "NP_001393524.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406595.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "NM_001406596.1",
"protein_id": "NP_001393525.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406596.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "ENST00000643875.1",
"protein_id": "ENSP00000495158.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643875.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "ENST00000646440.2",
"protein_id": "ENSP00000495830.2",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646440.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Pro1023Ser",
"transcript": "ENST00000646625.1",
"protein_id": "ENSP00000496263.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646625.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3064C>T",
"hgvs_p": "p.Pro1022Ser",
"transcript": "NM_001162426.2",
"protein_id": "NP_001155898.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001162426.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3064C>T",
"hgvs_p": "p.Pro1022Ser",
"transcript": "NM_001406597.1",
"protein_id": "NP_001393526.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406597.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3064C>T",
"hgvs_p": "p.Pro1022Ser",
"transcript": "NM_001406598.1",
"protein_id": "NP_001393527.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406598.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3064C>T",
"hgvs_p": "p.Pro1022Ser",
"transcript": "NM_001406599.1",
"protein_id": "NP_001393528.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406599.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3064C>T",
"hgvs_p": "p.Pro1022Ser",
"transcript": "NM_001406600.1",
"protein_id": "NP_001393529.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406600.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3064C>T",
"hgvs_p": "p.Pro1022Ser",
"transcript": "ENST00000475903.7",
"protein_id": "ENSP00000496126.2",
"transcript_support_level": 4,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475903.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3064C>T",
"hgvs_p": "p.Pro1022Ser",
"transcript": "ENST00000642617.1",
"protein_id": "ENSP00000493773.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642617.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3064C>T",
"hgvs_p": "p.Pro1022Ser",
"transcript": "ENST00000644097.1",
"protein_id": "ENSP00000494682.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644097.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3064C>T",
"hgvs_p": "p.Pro1022Ser",
"transcript": "ENST00000911226.1",
"protein_id": "ENSP00000581285.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911226.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3064C>T",
"hgvs_p": "p.Pro1022Ser",
"transcript": "ENST00000935874.1",
"protein_id": "ENSP00000605933.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935874.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3052C>T",
"hgvs_p": "p.Pro1018Ser",
"transcript": "NM_001406601.1",
"protein_id": "NP_001393530.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
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}
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}