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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: 1-39448691-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39448691&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 39448691,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000564288.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.20186G>C",
"hgvs_p": "p.Ser6729Thr",
"transcript": "NM_001394062.1",
"protein_id": "NP_001380991.1",
"transcript_support_level": null,
"aa_start": 6729,
"aa_end": null,
"aa_length": 7555,
"cds_start": 20186,
"cds_end": null,
"cds_length": 22668,
"cdna_start": 20514,
"cdna_end": null,
"cdna_length": 24340,
"mane_select": "ENST00000564288.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.20186G>C",
"hgvs_p": "p.Ser6729Thr",
"transcript": "ENST00000564288.6",
"protein_id": "ENSP00000455274.1",
"transcript_support_level": 5,
"aa_start": 6729,
"aa_end": null,
"aa_length": 7555,
"cds_start": 20186,
"cds_end": null,
"cds_length": 22668,
"cdna_start": 20514,
"cdna_end": null,
"cdna_length": 24340,
"mane_select": "NM_001394062.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.20297G>C",
"hgvs_p": "p.Ser6766Thr",
"transcript": "ENST00000567887.5",
"protein_id": "ENSP00000455823.1",
"transcript_support_level": 5,
"aa_start": 6766,
"aa_end": null,
"aa_length": 7592,
"cds_start": 20297,
"cds_end": null,
"cds_length": 22779,
"cdna_start": 20454,
"cdna_end": null,
"cdna_length": 24319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 96,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.19874G>C",
"hgvs_p": "p.Ser6625Thr",
"transcript": "ENST00000372915.8",
"protein_id": "ENSP00000362006.4",
"transcript_support_level": 5,
"aa_start": 6625,
"aa_end": null,
"aa_length": 7385,
"cds_start": 19874,
"cds_end": null,
"cds_length": 22158,
"cdna_start": 19961,
"cdna_end": null,
"cdna_length": 23431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.14009G>C",
"hgvs_p": "p.Ser4670Thr",
"transcript": "NM_012090.5",
"protein_id": "NP_036222.3",
"transcript_support_level": null,
"aa_start": 4670,
"aa_end": null,
"aa_length": 5430,
"cds_start": 14009,
"cds_end": null,
"cds_length": 16293,
"cdna_start": 14061,
"cdna_end": null,
"cdna_length": 17689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.14009G>C",
"hgvs_p": "p.Ser4670Thr",
"transcript": "ENST00000361689.7",
"protein_id": "ENSP00000354573.2",
"transcript_support_level": 5,
"aa_start": 4670,
"aa_end": null,
"aa_length": 5430,
"cds_start": 14009,
"cds_end": null,
"cds_length": 16293,
"cdna_start": 14188,
"cdna_end": null,
"cdna_length": 17665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.13856G>C",
"hgvs_p": "p.Ser4619Thr",
"transcript": "ENST00000671089.2",
"protein_id": "ENSP00000499399.1",
"transcript_support_level": null,
"aa_start": 4619,
"aa_end": null,
"aa_length": 5379,
"cds_start": 13856,
"cds_end": null,
"cds_length": 16140,
"cdna_start": 13956,
"cdna_end": null,
"cdna_length": 17433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.11018G>C",
"hgvs_p": "p.Ser3673Thr",
"transcript": "ENST00000372925.6",
"protein_id": "ENSP00000362016.2",
"transcript_support_level": 5,
"aa_start": 3673,
"aa_end": null,
"aa_length": 4433,
"cds_start": 11018,
"cds_end": null,
"cds_length": 13302,
"cdna_start": 11019,
"cdna_end": null,
"cdna_length": 14496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.8264G>C",
"hgvs_p": "p.Ser2755Thr",
"transcript": "NM_001397473.1",
"protein_id": "NP_001384402.1",
"transcript_support_level": null,
"aa_start": 2755,
"aa_end": null,
"aa_length": 3515,
"cds_start": 8264,
"cds_end": null,
"cds_length": 10548,
"cdna_start": 9457,
"cdna_end": null,
"cdna_length": 13085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.4547G>C",
"hgvs_p": "p.Ser1516Thr",
"transcript": "ENST00000683517.1",
"protein_id": "ENSP00000508231.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 2276,
"cds_start": 4547,
"cds_end": null,
"cds_length": 6831,
"cdna_start": 4547,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.15646G>C",
"hgvs_p": null,
"transcript": "ENST00000289893.8",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.5859G>C",
"hgvs_p": null,
"transcript": "ENST00000686067.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.2168G>C",
"hgvs_p": null,
"transcript": "ENST00000686941.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.5859G>C",
"hgvs_p": null,
"transcript": "ENST00000687997.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.2247G>C",
"hgvs_p": null,
"transcript": "ENST00000691623.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"dbsnp": "rs668556",
"frequency_reference_population": 0.56192505,
"hom_count_reference_population": 261134,
"allele_count_reference_population": 905440,
"gnomad_exomes_af": 0.556764,
"gnomad_genomes_af": 0.611492,
"gnomad_exomes_ac": 812514,
"gnomad_genomes_ac": 92926,
"gnomad_exomes_homalt": 231523,
"gnomad_genomes_homalt": 29611,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000013418957678368315,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0544,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.791,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "ENST00000564288.6",
"gene_symbol": "MACF1",
"hgnc_id": 13664,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.20186G>C",
"hgvs_p": "p.Ser6729Thr"
}
],
"clinvar_disease": "Lissencephaly 9 with complex brainstem malformation,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Lissencephaly 9 with complex brainstem malformation",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}