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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: 16-8847753-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8847753&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 8847753,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000303.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp",
"transcript": "NM_000303.3",
"protein_id": "NP_000294.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 246,
"cds_start": 669,
"cds_end": null,
"cds_length": 741,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": "ENST00000268261.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000303.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp",
"transcript": "ENST00000268261.9",
"protein_id": "ENSP00000268261.4",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 246,
"cds_start": 669,
"cds_end": null,
"cds_length": 741,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": "NM_000303.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268261.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*287C>T",
"hgvs_p": null,
"transcript": "ENST00000565221.5",
"protein_id": "ENSP00000457932.1",
"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": 793,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565221.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*291C>T",
"hgvs_p": null,
"transcript": "ENST00000566540.5",
"protein_id": "ENSP00000454284.1",
"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": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566540.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.3837C>T",
"hgvs_p": null,
"transcript": "ENST00000567697.2",
"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": 5397,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000567697.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*287C>T",
"hgvs_p": null,
"transcript": "ENST00000565221.5",
"protein_id": "ENSP00000457932.1",
"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": 793,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565221.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*291C>T",
"hgvs_p": null,
"transcript": "ENST00000566540.5",
"protein_id": "ENSP00000454284.1",
"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": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566540.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.711C>T",
"hgvs_p": "p.Asp237Asp",
"transcript": "ENST00000966170.1",
"protein_id": "ENSP00000636229.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 260,
"cds_start": 711,
"cds_end": null,
"cds_length": 783,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966170.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Asp222Asp",
"transcript": "ENST00000932322.1",
"protein_id": "ENSP00000602381.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 245,
"cds_start": 666,
"cds_end": null,
"cds_length": 738,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932322.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.639C>T",
"hgvs_p": "p.Asp213Asp",
"transcript": "ENST00000932323.1",
"protein_id": "ENSP00000602382.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 236,
"cds_start": 639,
"cds_end": null,
"cds_length": 711,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932323.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.624C>T",
"hgvs_p": "p.Asp208Asp",
"transcript": "ENST00000859787.1",
"protein_id": "ENSP00000529846.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 231,
"cds_start": 624,
"cds_end": null,
"cds_length": 696,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859787.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.615C>T",
"hgvs_p": "p.Asp205Asp",
"transcript": "ENST00000932321.1",
"protein_id": "ENSP00000602380.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 228,
"cds_start": 615,
"cds_end": null,
"cds_length": 687,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932321.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.600C>T",
"hgvs_p": "p.Asp200Asp",
"transcript": "ENST00000859785.1",
"protein_id": "ENSP00000529844.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 223,
"cds_start": 600,
"cds_end": null,
"cds_length": 672,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859785.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.588C>T",
"hgvs_p": "p.Asp196Asp",
"transcript": "ENST00000566983.5",
"protein_id": "ENSP00000457956.1",
"transcript_support_level": 5,
"aa_start": 196,
"aa_end": null,
"aa_length": 219,
"cds_start": 588,
"cds_end": null,
"cds_length": 660,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566983.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.477C>T",
"hgvs_p": "p.Asp159Asp",
"transcript": "ENST00000859788.1",
"protein_id": "ENSP00000529847.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 182,
"cds_start": 477,
"cds_end": null,
"cds_length": 549,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859788.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Asp132Asp",
"transcript": "ENST00000569958.5",
"protein_id": "ENSP00000456302.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 155,
"cds_start": 396,
"cds_end": null,
"cds_length": 468,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569958.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Asp108Asp",
"transcript": "ENST00000859786.1",
"protein_id": "ENSP00000529845.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 131,
"cds_start": 324,
"cds_end": null,
"cds_length": 396,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859786.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Asp140Asp",
"transcript": "XM_047434215.1",
"protein_id": "XP_047290171.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 163,
"cds_start": 420,
"cds_end": null,
"cds_length": 492,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.203C>T",
"hgvs_p": null,
"transcript": "ENST00000562025.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000562025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*391C>T",
"hgvs_p": null,
"transcript": "ENST00000562318.5",
"protein_id": "ENSP00000454395.1",
"transcript_support_level": 2,
"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": 931,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562318.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM2",
"gene_hgnc_id": 9115,
"hgvs_c": "n.*209C>T",
"hgvs_p": null,
"transcript": "ENST00000566604.5",
"protein_id": "ENSP00000456774.1",
"transcript_support_level": 2,
"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": 986,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566604.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260350",
"gene_hgnc_id": 58482,
"hgvs_c": "n.327G>A",
"hgvs_p": null,
"transcript": "ENST00000567942.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 430,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000567942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": -2,
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"BP6_Moderate"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "PMM2-congenital disorder of glycosylation",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "PMM2-congenital disorder of glycosylation",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}