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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: 12-93575055-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=93575055&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 93575055,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003877.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "NM_001270471.2",
"protein_id": "NP_001257400.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000551556.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270471.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000551556.2",
"protein_id": "ENSP00000449227.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270471.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551556.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000340600.6",
"protein_id": "ENSP00000339428.2",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340600.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000549122.5",
"protein_id": "ENSP00000447161.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549122.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "NM_001270467.2",
"protein_id": "NP_001257396.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270467.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "NM_001270468.2",
"protein_id": "NP_001257397.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270468.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "NM_001270469.2",
"protein_id": "NP_001257398.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270469.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "NM_001270470.1",
"protein_id": "NP_001257399.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270470.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "NM_003877.5",
"protein_id": "NP_003868.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003877.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000536696.6",
"protein_id": "ENSP00000442898.2",
"transcript_support_level": 2,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536696.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000549206.5",
"protein_id": "ENSP00000448815.1",
"transcript_support_level": 3,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549206.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000622746.4",
"protein_id": "ENSP00000481249.1",
"transcript_support_level": 3,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622746.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000862890.1",
"protein_id": "ENSP00000532949.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862890.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000862891.1",
"protein_id": "ENSP00000532950.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862891.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000862892.1",
"protein_id": "ENSP00000532951.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862892.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000862893.1",
"protein_id": "ENSP00000532952.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862893.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000862894.1",
"protein_id": "ENSP00000532953.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862894.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000922434.1",
"protein_id": "ENSP00000592493.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922434.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000922435.1",
"protein_id": "ENSP00000592494.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922435.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000922436.1",
"protein_id": "ENSP00000592495.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922436.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000922437.1",
"protein_id": "ENSP00000592496.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922437.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS2",
"gene_hgnc_id": 19382,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Thr158Lys",
"transcript": "ENST00000922438.1",
"protein_id": "ENSP00000592497.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 198,
"cds_start": 473,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}