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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: 9-137087006-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137087006&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137087006,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016219.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "NM_016219.5",
"protein_id": "NP_057303.2",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 699,
"cds_start": 7,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": "ENST00000371589.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000371589.9",
"protein_id": "ENSP00000360645.4",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 699,
"cds_start": 7,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": "NM_016219.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.7G>T",
"hgvs_p": null,
"transcript": "ENST00000371587.9",
"protein_id": "ENSP00000483132.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.7G>T",
"hgvs_p": null,
"transcript": "ENST00000544448.6",
"protein_id": "ENSP00000444966.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000682881.1",
"protein_id": "ENSP00000506762.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 796,
"cds_start": 7,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000535144.6",
"protein_id": "ENSP00000441398.3",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 731,
"cds_start": 7,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000682212.1",
"protein_id": "ENSP00000508217.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 725,
"cds_start": 7,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000684759.1",
"protein_id": "ENSP00000507818.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 724,
"cds_start": 7,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000683324.1",
"protein_id": "ENSP00000507373.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 698,
"cds_start": 7,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000684144.1",
"protein_id": "ENSP00000508213.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 697,
"cds_start": 7,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000682117.1",
"protein_id": "ENSP00000507328.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 686,
"cds_start": 7,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000683355.1",
"protein_id": "ENSP00000508045.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 653,
"cds_start": 7,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000683987.1",
"protein_id": "ENSP00000507715.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 648,
"cds_start": 7,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000475449.7",
"protein_id": "ENSP00000448658.2",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 637,
"cds_start": 7,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "ENST00000542372.2",
"protein_id": "ENSP00000444189.2",
"transcript_support_level": 4,
"aa_start": 3,
"aa_end": null,
"aa_length": 559,
"cds_start": 7,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.7G>T",
"hgvs_p": "p.Ala3Ser",
"transcript": "XM_006716945.5",
"protein_id": "XP_006717008.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 731,
"cds_start": 7,
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"cds_length": 2196,
"cdna_start": 22,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.7G>T",
"hgvs_p": null,
"transcript": "ENST00000545539.6",
"protein_id": "ENSP00000440314.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.31G>T",
"hgvs_p": null,
"transcript": "ENST00000682210.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.42G>T",
"hgvs_p": null,
"transcript": "ENST00000682425.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.7G>T",
"hgvs_p": null,
"transcript": "ENST00000683135.1",
"protein_id": "ENSP00000507130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.7G>T",
"hgvs_p": null,
"transcript": "ENST00000683475.1",
"protein_id": "ENSP00000507749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.7G>T",
"hgvs_p": null,
"transcript": "ENST00000683979.1",
"protein_id": "ENSP00000507362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.7G>T",
"hgvs_p": null,
"transcript": "ENST00000684138.1",
"protein_id": "ENSP00000506755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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{
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],
"verdict": "Likely_benign",
"transcript": "NM_016219.5",
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"effects": [
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{
"score": -2,
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],
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Rafiq syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}