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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: 1-205419237-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205419237&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205419237,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001199050.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Asp66Glu",
"transcript": "NM_001199050.2",
"protein_id": "NP_001185979.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 181,
"cds_start": 198,
"cds_end": null,
"cds_length": 546,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 931,
"mane_select": "ENST00000367153.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199050.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Asp66Glu",
"transcript": "ENST00000367153.9",
"protein_id": "ENSP00000356121.4",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 181,
"cds_start": 198,
"cds_end": null,
"cds_length": 546,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 931,
"mane_select": "NM_001199050.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367153.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Asp66Glu",
"transcript": "ENST00000367151.4",
"protein_id": "ENSP00000356119.3",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 181,
"cds_start": 198,
"cds_end": null,
"cds_length": 546,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367151.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "n.161+1218C>G",
"hgvs_p": null,
"transcript": "ENST00000476884.1",
"protein_id": null,
"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": 717,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476884.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Asp66Glu",
"transcript": "NM_001001552.5",
"protein_id": "NP_001001552.3",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 108,
"cds_start": 198,
"cds_end": null,
"cds_length": 327,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001552.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Asp66Glu",
"transcript": "ENST00000367154.5",
"protein_id": "ENSP00000356122.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 108,
"cds_start": 198,
"cds_end": null,
"cds_length": 327,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367154.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Asp66Glu",
"transcript": "ENST00000391936.6",
"protein_id": "ENSP00000375801.2",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 108,
"cds_start": 198,
"cds_end": null,
"cds_length": 327,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391936.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Asp66Glu",
"transcript": "XM_011510160.3",
"protein_id": "XP_011508462.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 209,
"cds_start": 198,
"cds_end": null,
"cds_length": 630,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510160.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Asp66Glu",
"transcript": "XM_011510162.3",
"protein_id": "XP_011508464.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 203,
"cds_start": 198,
"cds_end": null,
"cds_length": 612,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510162.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.82+1218C>G",
"hgvs_p": null,
"transcript": "NM_001199051.2",
"protein_id": "NP_001185980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199051.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.82+1218C>G",
"hgvs_p": null,
"transcript": "ENST00000367152.5",
"protein_id": "ENSP00000356120.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367152.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.82+1218C>G",
"hgvs_p": null,
"transcript": "NM_001199052.2",
"protein_id": "NP_001185981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199052.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.82+1218C>G",
"hgvs_p": null,
"transcript": "ENST00000367149.6",
"protein_id": "ENSP00000356117.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367149.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.82+1218C>G",
"hgvs_p": null,
"transcript": "ENST00000495594.2",
"protein_id": "ENSP00000479306.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495594.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.82+1218C>G",
"hgvs_p": null,
"transcript": "XM_011510163.3",
"protein_id": "XP_011508465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510163.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "c.82+1218C>G",
"hgvs_p": null,
"transcript": "XM_047434586.1",
"protein_id": "XP_047290542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LEMD1-AS1",
"gene_hgnc_id": 44132,
"hgvs_c": "n.217-3540G>C",
"hgvs_p": null,
"transcript": "ENST00000813436.1",
"protein_id": null,
"transcript_support_level": null,
"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": 394,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000813436.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"hgvs_c": "n.187+1218C>G",
"hgvs_p": null,
"transcript": "NR_037583.2",
"protein_id": null,
"transcript_support_level": null,
"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": 743,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037583.2"
}
],
"gene_symbol": "LEMD1",
"gene_hgnc_id": 18725,
"dbsnp": "rs760767068",
"frequency_reference_population": 0.0000041048092,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410481,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04941663146018982,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.1921,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.07,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001199050.2",
"gene_symbol": "LEMD1",
"hgnc_id": 18725,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Asp66Glu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000813436.1",
"gene_symbol": "LEMD1-AS1",
"hgnc_id": 44132,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.217-3540G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}