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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: 3-49016642-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49016642&ref=C&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": "DALRD3",
"hgnc_id": 25536,
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001009996.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0933,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "3",
"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": 0.04704120755195618,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001009996.3",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341949.9",
"protein_coding": true,
"protein_id": "NP_001009996.1",
"strand": false,
"transcript": "NM_001009996.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000341949.9",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001009996.3",
"protein_coding": true,
"protein_id": "ENSP00000344989.4",
"strand": false,
"transcript": "ENST00000341949.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 516,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000441576.6",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410623.2",
"strand": false,
"transcript": "ENST00000441576.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 386,
"aa_ref": "A",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 1161,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000440857.5",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.532G>T",
"hgvs_p": "p.Ala178Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403770.1",
"strand": false,
"transcript": "ENST00000440857.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000460505.5",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "n.1116G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000460505.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1591,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000467457.5",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "n.693-131G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000467457.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "A",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000873682.1",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1030G>T",
"hgvs_p": "p.Ala344Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543741.1",
"strand": false,
"transcript": "ENST00000873682.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969753.1",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639812.1",
"strand": false,
"transcript": "ENST00000969753.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 540,
"aa_ref": "A",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916246.1",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1030G>T",
"hgvs_p": "p.Ala344Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586305.1",
"strand": false,
"transcript": "ENST00000916246.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 538,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969752.1",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639811.1",
"strand": false,
"transcript": "ENST00000969752.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 537,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969754.1",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639813.1",
"strand": false,
"transcript": "ENST00000969754.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 533,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1664,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969755.1",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639814.1",
"strand": false,
"transcript": "ENST00000969755.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 516,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001276405.2",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263334.1",
"strand": false,
"transcript": "NM_001276405.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 2562,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000916245.1",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586304.1",
"strand": false,
"transcript": "ENST00000916245.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000873681.1",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543740.1",
"strand": false,
"transcript": "ENST00000873681.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 376,
"aa_ref": "A",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1131,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_018114.6",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.532G>T",
"hgvs_p": "p.Ala178Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060584.3",
"strand": false,
"transcript": "NM_018114.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 376,
"aa_ref": "A",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1131,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000313778.9",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.532G>T",
"hgvs_p": "p.Ala178Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323265.5",
"strand": false,
"transcript": "ENST00000313778.9",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2564,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448436.1",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304392.1",
"strand": false,
"transcript": "XM_047448436.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 558,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011533891.3",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532193.1",
"strand": false,
"transcript": "XM_011533891.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": 2564,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448437.1",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.1033G>T",
"hgvs_p": "p.Ala345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304393.1",
"strand": false,
"transcript": "XM_047448437.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 408,
"aa_ref": "A",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1227,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006713219.3",
"gene_hgnc_id": 25536,
"gene_symbol": "DALRD3",
"hgvs_c": "c.532G>T",
"hgvs_p": "p.Ala178Ser",
"intron_rank": null,
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