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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: 3-48692984-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48692984&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48692984,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016291.4",
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "NM_016291.4",
"protein_id": "NP_057375.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328631.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016291.4"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000328631.10",
"protein_id": "ENSP00000331103.5",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016291.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328631.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "n.695G>T",
"hgvs_p": null,
"transcript": "ENST00000479914.5",
"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": "ENST00000479914.5"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.467G>T",
"hgvs_p": "p.Arg156Leu",
"transcript": "ENST00000921848.1",
"protein_id": "ENSP00000591907.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 449,
"cds_start": 467,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921848.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.467G>T",
"hgvs_p": "p.Arg156Leu",
"transcript": "ENST00000921850.1",
"protein_id": "ENSP00000591909.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 449,
"cds_start": 467,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921850.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.467G>T",
"hgvs_p": "p.Arg156Leu",
"transcript": "ENST00000921857.1",
"protein_id": "ENSP00000591916.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 449,
"cds_start": 467,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921857.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.467G>T",
"hgvs_p": "p.Arg156Leu",
"transcript": "ENST00000946886.1",
"protein_id": "ENSP00000616945.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 449,
"cds_start": 467,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946886.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000904745.1",
"protein_id": "ENSP00000574804.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 447,
"cds_start": 398,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904745.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.440G>T",
"hgvs_p": "p.Arg147Leu",
"transcript": "ENST00000946882.1",
"protein_id": "ENSP00000616941.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 440,
"cds_start": 440,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946882.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "NM_001005909.3",
"protein_id": "NP_001005909.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005909.3"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000904743.1",
"protein_id": "ENSP00000574802.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904743.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000904744.1",
"protein_id": "ENSP00000574803.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904744.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000904746.1",
"protein_id": "ENSP00000574805.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904746.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000904748.1",
"protein_id": "ENSP00000574807.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904748.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000921847.1",
"protein_id": "ENSP00000591906.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921847.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000921849.1",
"protein_id": "ENSP00000591908.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921849.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000921851.1",
"protein_id": "ENSP00000591910.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921851.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000921852.1",
"protein_id": "ENSP00000591911.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921852.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000921853.1",
"protein_id": "ENSP00000591912.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921853.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000921854.1",
"protein_id": "ENSP00000591913.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921854.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000921855.1",
"protein_id": "ENSP00000591914.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921855.1"
},
{
"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": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000921856.1",
"protein_id": "ENSP00000591915.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 398,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}