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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: 16-47461371-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=47461371&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 47461371,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000293.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "NM_000293.3",
"protein_id": "NP_000284.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1093,
"cds_start": 21,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323584.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000293.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000323584.10",
"protein_id": "ENSP00000313504.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 1093,
"cds_start": 21,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000293.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323584.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.-113C>T",
"hgvs_p": null,
"transcript": "ENST00000566044.5",
"protein_id": "ENSP00000456729.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": null,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566044.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "n.36C>T",
"hgvs_p": null,
"transcript": "ENST00000567402.5",
"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": "pseudogene",
"feature": "ENST00000567402.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000940565.1",
"protein_id": "ENSP00000610624.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1119,
"cds_start": 21,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940565.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000970599.1",
"protein_id": "ENSP00000640658.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1119,
"cds_start": 21,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970599.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000970601.1",
"protein_id": "ENSP00000640660.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1102,
"cds_start": 21,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970601.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "NM_001363837.1",
"protein_id": "NP_001350766.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1093,
"cds_start": 21,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363837.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000299167.12",
"protein_id": "ENSP00000299167.8",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 1093,
"cds_start": 21,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299167.12"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000970603.1",
"protein_id": "ENSP00000640662.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1091,
"cds_start": 21,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970603.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000970604.1",
"protein_id": "ENSP00000640663.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1088,
"cds_start": 21,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970604.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000970606.1",
"protein_id": "ENSP00000640665.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1080,
"cds_start": 21,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970606.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000868353.1",
"protein_id": "ENSP00000538412.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1067,
"cds_start": 21,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868353.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000970600.1",
"protein_id": "ENSP00000640659.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1067,
"cds_start": 21,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970600.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000868352.1",
"protein_id": "ENSP00000538411.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1058,
"cds_start": 21,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868352.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000970605.1",
"protein_id": "ENSP00000640664.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 21,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970605.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000970598.1",
"protein_id": "ENSP00000640657.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1033,
"cds_start": 21,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970598.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000868354.1",
"protein_id": "ENSP00000538413.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 995,
"cds_start": 21,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868354.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.21C>T",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000970602.1",
"protein_id": "ENSP00000640661.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 941,
"cds_start": 21,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970602.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.-113C>T",
"hgvs_p": null,
"transcript": "NM_001031835.3",
"protein_id": "NP_001027005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": null,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031835.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.-96C>T",
"hgvs_p": null,
"transcript": "ENST00000566037.6",
"protein_id": "ENSP00000455664.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566037.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKB",
"gene_hgnc_id": 8927,
"hgvs_c": "c.-225C>T",
"hgvs_p": null,
"transcript": "ENST00000563376.5",
"protein_id": "ENSP00000457905.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563376.5"
},
{
"aa_ref": null,
"aa_alt": null,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.73,
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"phylop100way_prediction": "Benign",
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"acmg_score": -5,
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"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000293.3",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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],
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],
"clinvar_disease": "Glycogen storage disease IXb",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Glycogen storage disease IXb",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}