← Back to variant description
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: 2-84653321-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=84653321&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 84653321,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001370.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5081G>C",
"hgvs_p": "p.Gly1694Ala",
"transcript": "NM_001370.2",
"protein_id": "NP_001361.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 4158,
"cds_start": 5081,
"cds_end": null,
"cds_length": 12477,
"cdna_start": 5175,
"cdna_end": null,
"cdna_length": 12752,
"mane_select": "ENST00000389394.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5081G>C",
"hgvs_p": "p.Gly1694Ala",
"transcript": "ENST00000389394.8",
"protein_id": "ENSP00000374045.3",
"transcript_support_level": 5,
"aa_start": 1694,
"aa_end": null,
"aa_length": 4158,
"cds_start": 5081,
"cds_end": null,
"cds_length": 12477,
"cdna_start": 5175,
"cdna_end": null,
"cdna_length": 12752,
"mane_select": "NM_001370.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389394.8"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5081G>C",
"hgvs_p": "p.Gly1694Ala",
"transcript": "XM_006711956.3",
"protein_id": "XP_006712019.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 4158,
"cds_start": 5081,
"cds_end": null,
"cds_length": 12477,
"cdna_start": 5416,
"cdna_end": null,
"cdna_length": 12993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711956.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5081G>C",
"hgvs_p": "p.Gly1694Ala",
"transcript": "XM_011532649.3",
"protein_id": "XP_011530951.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 4158,
"cds_start": 5081,
"cds_end": null,
"cds_length": 12477,
"cdna_start": 5188,
"cdna_end": null,
"cdna_length": 12765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532649.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5081G>C",
"hgvs_p": "p.Gly1694Ala",
"transcript": "XM_011532650.4",
"protein_id": "XP_011530952.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 4158,
"cds_start": 5081,
"cds_end": null,
"cds_length": 12477,
"cdna_start": 5193,
"cdna_end": null,
"cdna_length": 12770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532650.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.4955G>C",
"hgvs_p": "p.Gly1652Ala",
"transcript": "XM_011532652.2",
"protein_id": "XP_011530954.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 4116,
"cds_start": 4955,
"cds_end": null,
"cds_length": 12351,
"cdna_start": 5049,
"cdna_end": null,
"cdna_length": 12626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532652.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5081G>C",
"hgvs_p": "p.Gly1694Ala",
"transcript": "XM_011532653.2",
"protein_id": "XP_011530955.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 4109,
"cds_start": 5081,
"cds_end": null,
"cds_length": 12330,
"cdna_start": 5175,
"cdna_end": null,
"cdna_length": 12605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532653.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.4955G>C",
"hgvs_p": "p.Gly1652Ala",
"transcript": "XM_017003521.2",
"protein_id": "XP_016859010.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 4067,
"cds_start": 4955,
"cds_end": null,
"cds_length": 12204,
"cdna_start": 5049,
"cdna_end": null,
"cdna_length": 12479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003521.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.4691G>C",
"hgvs_p": "p.Gly1564Ala",
"transcript": "XM_011532654.1",
"protein_id": "XP_011530956.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 4028,
"cds_start": 4691,
"cds_end": null,
"cds_length": 12087,
"cdna_start": 4951,
"cdna_end": null,
"cdna_length": 12528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532654.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.4097G>C",
"hgvs_p": "p.Gly1366Ala",
"transcript": "XM_011532655.2",
"protein_id": "XP_011530957.1",
"transcript_support_level": null,
"aa_start": 1366,
"aa_end": null,
"aa_length": 3830,
"cds_start": 4097,
"cds_end": null,
"cds_length": 11493,
"cdna_start": 4240,
"cdna_end": null,
"cdna_length": 11817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532655.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.3818G>C",
"hgvs_p": "p.Gly1273Ala",
"transcript": "XM_011532657.1",
"protein_id": "XP_011530959.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 3737,
"cds_start": 3818,
"cds_end": null,
"cds_length": 11214,
"cdna_start": 3979,
"cdna_end": null,
"cdna_length": 11556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532657.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.3818G>C",
"hgvs_p": "p.Gly1273Ala",
"transcript": "XM_047443589.1",
"protein_id": "XP_047299545.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 3737,
"cds_start": 3818,
"cds_end": null,
"cds_length": 11214,
"cdna_start": 3970,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443589.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.3089G>C",
"hgvs_p": "p.Gly1030Ala",
"transcript": "XM_047443590.1",
"protein_id": "XP_047299546.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 3494,
"cds_start": 3089,
"cds_end": null,
"cds_length": 10485,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 10792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443590.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5081G>C",
"hgvs_p": "p.Gly1694Ala",
"transcript": "XM_011532660.2",
"protein_id": "XP_011530962.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 2275,
"cds_start": 5081,
"cds_end": null,
"cds_length": 6828,
"cdna_start": 5175,
"cdna_end": null,
"cdna_length": 7030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532660.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"hgvs_c": "c.5081G>C",
"hgvs_p": "p.Gly1694Ala",
"transcript": "XM_017003524.2",
"protein_id": "XP_016859013.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 2213,
"cds_start": 5081,
"cds_end": null,
"cds_length": 6642,
"cdna_start": 5175,
"cdna_end": null,
"cdna_length": 6832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003524.2"
}
],
"gene_symbol": "DNAH6",
"gene_hgnc_id": 2951,
"dbsnp": "rs28375417",
"frequency_reference_population": 0.12753615,
"hom_count_reference_population": 12907,
"allele_count_reference_population": 192047,
"gnomad_exomes_af": 0.129473,
"gnomad_genomes_af": 0.110298,
"gnomad_exomes_ac": 175272,
"gnomad_genomes_ac": 16775,
"gnomad_exomes_homalt": 11921,
"gnomad_genomes_homalt": 986,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002086460590362549,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.1946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.165,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001370.2",
"gene_symbol": "DNAH6",
"hgnc_id": 2951,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5081G>C",
"hgvs_p": "p.Gly1694Ala"
}
],
"clinvar_disease": "DNAH6-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided|DNAH6-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}