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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: 1-197595326-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197595326&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DENND1B",
"hgnc_id": 28404,
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Ala310Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001195215.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 139,
"alphamissense_prediction": null,
"alphamissense_score": 0.1133,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01783880591392517,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 775,
"aa_ref": "A",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8365,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 2328,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001195215.2",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Ala310Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000620048.6",
"protein_coding": true,
"protein_id": "NP_001182144.1",
"strand": false,
"transcript": "NM_001195215.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 775,
"aa_ref": "A",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8365,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 2328,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000620048.6",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Ala310Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001195215.2",
"protein_coding": true,
"protein_id": "ENSP00000479816.1",
"strand": false,
"transcript": "ENST00000620048.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 426,
"aa_ref": "A",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1281,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000367396.7",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Ala310Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356366.3",
"strand": false,
"transcript": "ENST00000367396.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 396,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1191,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000235453.8",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Ala280Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000235453.4",
"strand": false,
"transcript": "ENST00000235453.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 757,
"aa_ref": "A",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 2274,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000887109.1",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Ala292Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557168.1",
"strand": false,
"transcript": "ENST00000887109.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 755,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 2268,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000887105.1",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557164.1",
"strand": false,
"transcript": "ENST00000887105.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 737,
"aa_ref": "A",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 2214,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000887107.1",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Ala272Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557166.1",
"strand": false,
"transcript": "ENST00000887107.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 700,
"aa_ref": "A",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3181,
"cdna_start": 949,
"cds_end": null,
"cds_length": 2103,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000887110.1",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ala235Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557169.1",
"strand": false,
"transcript": "ENST00000887110.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 426,
"aa_ref": "A",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1281,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_144977.5",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Ala310Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_659414.2",
"strand": false,
"transcript": "NM_144977.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 396,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1191,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001300858.2",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Ala280Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287787.1",
"strand": false,
"transcript": "NM_001300858.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 823,
"aa_ref": "A",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8615,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 2472,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011509246.3",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507548.1",
"strand": false,
"transcript": "XM_011509246.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8555,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1013,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011509247.2",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Ala338Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507549.1",
"strand": false,
"transcript": "XM_011509247.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 788,
"aa_ref": "A",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8184,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 2367,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011509248.3",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ala323Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507550.1",
"strand": false,
"transcript": "XM_011509248.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 765,
"aa_ref": "A",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8589,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 2298,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011509249.3",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ala300Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507551.1",
"strand": false,
"transcript": "XM_011509249.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 755,
"aa_ref": "A",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8305,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 2268,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_005244931.3",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ala290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005244988.1",
"strand": false,
"transcript": "XM_005244931.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 745,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8038,
"cdna_start": 927,
"cds_end": null,
"cds_length": 2238,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047447700.1",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Ala280Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303656.1",
"strand": false,
"transcript": "XM_047447700.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 574,
"aa_ref": "A",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8318,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1725,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_024453626.2",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Ala109Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309394.1",
"strand": false,
"transcript": "XM_024453626.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 574,
"aa_ref": "A",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8066,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1725,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047447711.1",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Ala109Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303667.1",
"strand": false,
"transcript": "XM_047447711.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "A",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7306,
"cdna_start": 195,
"cds_end": null,
"cds_length": 1476,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047447715.1",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Ala26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303671.1",
"strand": false,
"transcript": "XM_047447715.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18423,
"cdna_start": 11312,
"cds_end": null,
"cds_length": 1410,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006711194.4",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711257.1",
"strand": false,
"transcript": "XM_006711194.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 447,
"aa_ref": "A",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011509251.4",
"gene_hgnc_id": 28404,
"gene_symbol": "DENND1B",
"hgvs_c": "c.1073C>T",
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