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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: 12-76863206-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=76863206&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 76863206,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001413539.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "NM_001321.3",
"protein_id": "NP_001312.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311083.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000311083.10",
"protein_id": "ENSP00000310901.5",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001321.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311083.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "n.1749G>T",
"hgvs_p": null,
"transcript": "ENST00000548783.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000548783.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000919909.1",
"protein_id": "ENSP00000589968.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 251,
"cds_start": 251,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919909.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "NM_001413539.1",
"protein_id": "NP_001400468.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 243,
"cds_start": 251,
"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": "NM_001413539.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000552330.5",
"protein_id": "ENSP00000449824.1",
"transcript_support_level": 3,
"aa_start": 84,
"aa_end": null,
"aa_length": 243,
"cds_start": 251,
"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": "ENST00000552330.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000919911.1",
"protein_id": "ENSP00000589970.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 243,
"cds_start": 251,
"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": "ENST00000919911.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000919913.1",
"protein_id": "ENSP00000589972.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 243,
"cds_start": 251,
"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": "ENST00000919913.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "NM_001300965.2",
"protein_id": "NP_001287894.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300965.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "NM_001413535.1",
"protein_id": "NP_001400464.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413535.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "NM_001413537.1",
"protein_id": "NP_001400466.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413537.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "NM_001413538.1",
"protein_id": "NP_001400467.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413538.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000546966.5",
"protein_id": "ENSP00000450056.1",
"transcript_support_level": 3,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546966.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000909815.1",
"protein_id": "ENSP00000579874.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909815.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000909816.1",
"protein_id": "ENSP00000579875.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909816.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000909818.1",
"protein_id": "ENSP00000579877.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909818.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000909819.1",
"protein_id": "ENSP00000579878.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909819.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000909820.1",
"protein_id": "ENSP00000579879.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909820.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000909821.1",
"protein_id": "ENSP00000579880.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909821.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000909822.1",
"protein_id": "ENSP00000579881.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909822.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000919906.1",
"protein_id": "ENSP00000589965.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919906.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP2",
"gene_hgnc_id": 2470,
"hgvs_c": "c.251G>T",
"hgvs_p": "p.Arg84Leu",
"transcript": "ENST00000919907.1",
"protein_id": "ENSP00000589966.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 193,
"cds_start": 251,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919907.1"
},
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}
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}