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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: 20-36912462-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36912462&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36912462,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_015474.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "NM_015474.4",
"protein_id": "NP_056289.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 626,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646673.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015474.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "ENST00000646673.2",
"protein_id": "ENSP00000493536.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 626,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015474.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646673.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "ENST00000262878.5",
"protein_id": "ENSP00000262878.5",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 591,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262878.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "ENST00000866371.1",
"protein_id": "ENSP00000536430.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 672,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866371.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Ile385Val",
"transcript": "ENST00000866370.1",
"protein_id": "ENSP00000536429.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 640,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866370.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "ENST00000970830.1",
"protein_id": "ENSP00000640889.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 625,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970830.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1075A>G",
"hgvs_p": "p.Met359Val",
"transcript": "ENST00000866373.1",
"protein_id": "ENSP00000536432.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 600,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866373.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "NM_001363729.2",
"protein_id": "NP_001350658.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 591,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363729.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "NM_001363733.2",
"protein_id": "NP_001350662.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 589,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363733.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Met385Val",
"transcript": "ENST00000643918.1",
"protein_id": "ENSP00000493928.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 589,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643918.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.997A>G",
"hgvs_p": "p.Met333Val",
"transcript": "ENST00000866372.1",
"protein_id": "ENSP00000536431.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 574,
"cds_start": 997,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866372.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Met315Val",
"transcript": "ENST00000646066.1",
"protein_id": "ENSP00000495432.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 556,
"cds_start": 943,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646066.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.919A>G",
"hgvs_p": "p.Met307Val",
"transcript": "ENST00000926798.1",
"protein_id": "ENSP00000596857.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 548,
"cds_start": 919,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926798.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Met315Val",
"transcript": "ENST00000970831.1",
"protein_id": "ENSP00000640890.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 521,
"cds_start": 943,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970831.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*330A>G",
"hgvs_p": null,
"transcript": "ENST00000642186.1",
"protein_id": "ENSP00000494436.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000642186.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*832A>G",
"hgvs_p": null,
"transcript": "ENST00000642246.1",
"protein_id": "ENSP00000494979.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000642246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*677A>G",
"hgvs_p": null,
"transcript": "ENST00000642616.1",
"protein_id": "ENSP00000494271.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000642616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.*832A>G",
"hgvs_p": null,
"transcript": "ENST00000643078.1",
"protein_id": "ENSP00000496474.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000643078.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1153A>G",
"hgvs_p": null,
"transcript": "ENST00000644114.2",
"protein_id": "ENSP00000494354.2",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000644114.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1153A>G",
"hgvs_p": null,
"transcript": "ENST00000644250.2",
"protein_id": "ENSP00000493810.2",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000644250.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMHD1",
"gene_hgnc_id": 15925,
"hgvs_c": "n.1215A>G",
"hgvs_p": null,
"transcript": "ENST00000644688.2",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000644688.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
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}
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}