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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: 6-146159369-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=146159369&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 146159369,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001278064.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "NM_001278064.2",
"protein_id": "NP_001264993.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1194,
"cds_start": 722,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 6846,
"mane_select": "ENST00000282753.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278064.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "ENST00000282753.6",
"protein_id": "ENSP00000282753.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 1194,
"cds_start": 722,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 6846,
"mane_select": "NM_001278064.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282753.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "ENST00000355289.8",
"protein_id": "ENSP00000347437.4",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 908,
"cds_start": 722,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355289.8"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "ENST00000492807.6",
"protein_id": "ENSP00000424095.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 906,
"cds_start": 722,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492807.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "ENST00000507907.1",
"protein_id": "ENSP00000425599.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 906,
"cds_start": 722,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507907.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "ENST00000361719.6",
"protein_id": "ENSP00000354896.2",
"transcript_support_level": 5,
"aa_start": 241,
"aa_end": null,
"aa_length": 1194,
"cds_start": 722,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361719.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "ENST00000706833.1",
"protein_id": "ENSP00000516579.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1194,
"cds_start": 722,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706833.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "ENST00000706835.1",
"protein_id": "ENSP00000516581.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1194,
"cds_start": 722,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 5423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706835.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "NM_001278067.1",
"protein_id": "NP_001264996.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 908,
"cds_start": 722,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278067.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "NM_001278065.2",
"protein_id": "NP_001264994.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 906,
"cds_start": 722,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 6917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278065.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "NM_001278066.1",
"protein_id": "NP_001264995.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 906,
"cds_start": 722,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 6757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278066.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "ENST00000706834.1",
"protein_id": "ENSP00000516580.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 906,
"cds_start": 722,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706834.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "ENST00000706836.1",
"protein_id": "ENSP00000516582.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 906,
"cds_start": 722,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 6881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706836.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "XM_011535782.2",
"protein_id": "XP_011534084.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1194,
"cds_start": 722,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 6799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535782.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "XM_017010783.2",
"protein_id": "XP_016866272.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1194,
"cds_start": 722,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 6796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010783.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr",
"transcript": "XM_017010784.2",
"protein_id": "XP_016866273.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1194,
"cds_start": 722,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 6832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010784.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "n.1132T>C",
"hgvs_p": null,
"transcript": "ENST00000502405.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000502405.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"hgvs_c": "n.1192T>C",
"hgvs_p": null,
"transcript": "ENST00000507005.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000507005.1"
}
],
"gene_symbol": "GRM1",
"gene_hgnc_id": 4593,
"dbsnp": "rs768616151",
"frequency_reference_population": 0.0000061957794,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.0000061569,
"gnomad_genomes_af": 0.00000656909,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.921228289604187,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.945,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9776,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.626,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001278064.2",
"gene_symbol": "GRM1",
"hgnc_id": 4593,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Met241Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}