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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: 9-137108478-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137108478&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137108478,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016219.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Glu663Lys",
"transcript": "NM_016219.5",
"protein_id": "NP_057303.2",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 699,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371589.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016219.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Glu663Lys",
"transcript": "ENST00000371589.9",
"protein_id": "ENSP00000360645.4",
"transcript_support_level": 1,
"aa_start": 663,
"aa_end": null,
"aa_length": 699,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016219.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371589.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.*1664G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000371587.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.*270G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000544448.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.*1664G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000371587.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.*270G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000544448.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"transcript": "ENST00000877685.1",
"protein_id": "ENSP00000547744.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 726,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877685.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.2056G>A",
"hgvs_p": "p.Glu686Lys",
"transcript": "ENST00000877687.1",
"protein_id": "ENSP00000547746.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 722,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877687.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.2041G>A",
"hgvs_p": "p.Glu681Lys",
"transcript": "ENST00000916528.1",
"protein_id": "ENSP00000586587.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 717,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916528.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1984G>A",
"hgvs_p": "p.Glu662Lys",
"transcript": "ENST00000683324.1",
"protein_id": "ENSP00000507373.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 698,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683324.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1984G>A",
"hgvs_p": "p.Glu662Lys",
"transcript": "ENST00000916526.1",
"protein_id": "ENSP00000586585.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 698,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916526.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1984G>A",
"hgvs_p": "p.Glu662Lys",
"transcript": "ENST00000916527.1",
"protein_id": "ENSP00000586586.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 698,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916527.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1981G>A",
"hgvs_p": "p.Glu661Lys",
"transcript": "ENST00000684144.1",
"protein_id": "ENSP00000508213.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 697,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684144.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1981G>A",
"hgvs_p": "p.Glu661Lys",
"transcript": "ENST00000916531.1",
"protein_id": "ENSP00000586590.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 697,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916531.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Glu650Lys",
"transcript": "ENST00000682117.1",
"protein_id": "ENSP00000507328.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 686,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682117.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Glu644Lys",
"transcript": "ENST00000877684.1",
"protein_id": "ENSP00000547743.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 680,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877684.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Glu642Lys",
"transcript": "ENST00000916530.1",
"protein_id": "ENSP00000586589.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 678,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916530.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Glu639Lys",
"transcript": "ENST00000916529.1",
"protein_id": "ENSP00000586588.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 675,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916529.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1879G>A",
"hgvs_p": "p.Glu627Lys",
"transcript": "ENST00000877686.1",
"protein_id": "ENSP00000547745.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 663,
"cds_start": 1879,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877686.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1855G>A",
"hgvs_p": "p.Glu619Lys",
"transcript": "ENST00000946891.1",
"protein_id": "ENSP00000616950.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 655,
"cds_start": 1855,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946891.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Glu601Lys",
"transcript": "ENST00000475449.7",
"protein_id": "ENSP00000448658.2",
"transcript_support_level": 3,
"aa_start": 601,
"aa_end": null,
"aa_length": 637,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475449.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1798G>A",
"hgvs_p": "p.Glu600Lys",
"transcript": "ENST00000946890.1",
"protein_id": "ENSP00000616949.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 636,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1911,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"PP5"
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "Rafiq syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Rafiq syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}