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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: 17-5000283-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5000283&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5000283,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006612.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "NM_006612.6",
"protein_id": "NP_006603.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320785.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006612.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000320785.10",
"protein_id": "ENSP00000320821.5",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006612.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320785.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000948910.1",
"protein_id": "ENSP00000618969.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1113,
"cds_start": 37,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948910.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000948913.1",
"protein_id": "ENSP00000618972.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1113,
"cds_start": 37,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948913.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000894742.1",
"protein_id": "ENSP00000564801.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1105,
"cds_start": 37,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894742.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000948919.1",
"protein_id": "ENSP00000618978.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1105,
"cds_start": 37,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948919.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000894736.1",
"protein_id": "ENSP00000564795.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894736.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000894737.1",
"protein_id": "ENSP00000564796.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894737.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000894738.1",
"protein_id": "ENSP00000564797.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894738.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000894741.1",
"protein_id": "ENSP00000564800.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894741.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000894743.1",
"protein_id": "ENSP00000564802.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894743.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000894746.1",
"protein_id": "ENSP00000564805.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894746.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000894747.1",
"protein_id": "ENSP00000564806.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894747.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000894748.1",
"protein_id": "ENSP00000564807.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894748.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000919364.1",
"protein_id": "ENSP00000589423.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919364.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000919365.1",
"protein_id": "ENSP00000589424.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919365.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000919366.1",
"protein_id": "ENSP00000589425.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919366.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000948912.1",
"protein_id": "ENSP00000618971.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948912.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000948914.1",
"protein_id": "ENSP00000618973.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948914.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000948915.1",
"protein_id": "ENSP00000618974.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948915.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000948916.1",
"protein_id": "ENSP00000618975.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948916.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Arg13Trp",
"transcript": "ENST00000948917.1",
"protein_id": "ENSP00000618976.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1103,
"cds_start": 37,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
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}
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}