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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: 20-20000684-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=20000684&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 20000684,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001242581.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "NM_018993.4",
"protein_id": "NP_061866.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255006.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018993.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000255006.12",
"protein_id": "ENSP00000255006.7",
"transcript_support_level": 2,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018993.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255006.12"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1137C>T",
"hgvs_p": "p.Tyr379Tyr",
"transcript": "ENST00000440354.2",
"protein_id": "ENSP00000391239.2",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 462,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440354.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "n.2280C>T",
"hgvs_p": null,
"transcript": "ENST00000484638.1",
"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": "pseudogene",
"feature": "ENST00000484638.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2583C>T",
"hgvs_p": "p.Tyr861Tyr",
"transcript": "NM_001242581.2",
"protein_id": "NP_001229510.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 944,
"cds_start": 2583,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242581.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2469C>T",
"hgvs_p": "p.Tyr823Tyr",
"transcript": "ENST00000944194.1",
"protein_id": "ENSP00000614253.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 906,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944194.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000648440.1",
"protein_id": "ENSP00000498085.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648440.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000891327.1",
"protein_id": "ENSP00000561386.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891327.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000891328.1",
"protein_id": "ENSP00000561387.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891328.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000891329.1",
"protein_id": "ENSP00000561388.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891329.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000944192.1",
"protein_id": "ENSP00000614251.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944192.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000944193.1",
"protein_id": "ENSP00000614252.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944193.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000944195.1",
"protein_id": "ENSP00000614254.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944195.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000944196.1",
"protein_id": "ENSP00000614255.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944196.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000944197.1",
"protein_id": "ENSP00000614256.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944197.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000944198.1",
"protein_id": "ENSP00000614257.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944198.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000944199.1",
"protein_id": "ENSP00000614258.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944199.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000944200.1",
"protein_id": "ENSP00000614259.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944200.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000944202.1",
"protein_id": "ENSP00000614261.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944202.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Tyr812Tyr",
"transcript": "ENST00000944203.1",
"protein_id": "ENSP00000614262.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 895,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944203.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.2271C>T",
"hgvs_p": "p.Tyr757Tyr",
"transcript": "ENST00000944201.1",
"protein_id": "ENSP00000614260.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 840,
"cds_start": 2271,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944201.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Tyr606Tyr",
"transcript": "NM_001378238.1",
"protein_id": "NP_001365167.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 689,
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"phenotype_combined": "not specified|not provided|RIN2 syndrome",
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}
],
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}