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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: 12-32701418-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32701418&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 32701418,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000549701.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "NM_001278464.2",
"protein_id": "NP_001265393.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 749,
"cds_start": 106,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": "ENST00000553257.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000553257.6",
"protein_id": "ENSP00000449089.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 749,
"cds_start": 106,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": "NM_001278464.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "NM_012062.5",
"protein_id": "NP_036192.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 736,
"cds_start": 106,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": "ENST00000549701.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000549701.6",
"protein_id": "ENSP00000450399.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 736,
"cds_start": 106,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": "NM_012062.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000381000.8",
"protein_id": "ENSP00000370388.4",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 738,
"cds_start": 106,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000547312.5",
"protein_id": "ENSP00000448610.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 725,
"cds_start": 106,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000452533.6",
"protein_id": "ENSP00000415131.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 710,
"cds_start": 106,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 4439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000266481.10",
"protein_id": "ENSP00000266481.6",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 699,
"cds_start": 106,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "NM_001278465.2",
"protein_id": "NP_001265394.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 738,
"cds_start": 106,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "NM_001278463.2",
"protein_id": "NP_001265392.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 725,
"cds_start": 106,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000551476.6",
"protein_id": "ENSP00000447845.2",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 719,
"cds_start": 106,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "NM_001330380.2",
"protein_id": "NP_001317309.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 712,
"cds_start": 106,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000358214.9",
"protein_id": "ENSP00000350948.5",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 712,
"cds_start": 106,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "NM_012063.4",
"protein_id": "NP_036193.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 710,
"cds_start": 106,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "NM_005690.5",
"protein_id": "NP_005681.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 699,
"cds_start": 106,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000548750.6",
"protein_id": "ENSP00000447788.2",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 696,
"cds_start": 106,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000703369.1",
"protein_id": "ENSP00000515279.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 602,
"cds_start": 106,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000703361.1",
"protein_id": "ENSP00000515273.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 576,
"cds_start": 106,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "ENST00000550154.5",
"protein_id": "ENSP00000447013.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 167,
"cds_start": 106,
"cds_end": null,
"cds_length": 506,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly",
"transcript": "XM_011520543.4",
"protein_id": "XP_011518845.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 723,
"cds_start": 106,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4475,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "n.106A>G",
"hgvs_p": null,
"transcript": "ENST00000413295.6",
"protein_id": "ENSP00000396030.2",
"transcript_support_level": 2,
"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": 1064,
"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "n.106A>G",
"hgvs_p": null,
"transcript": "ENST00000434676.7",
"protein_id": "ENSP00000390090.2",
"transcript_support_level": 2,
"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": 3164,
"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": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "n.106A>G",
"hgvs_p": null,
"transcript": "ENST00000546649.5",
"protein_id": "ENSP00000448936.1",
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": -4,
"cds_end": null,
"cds_length": 1229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"dbsnp": "rs879255688",
"frequency_reference_population": 6.841321e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84132e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8886053562164307,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.915,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7052,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.974,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000549701.6",
"gene_symbol": "DNM1L",
"hgnc_id": 2973,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.106A>G",
"hgvs_p": "p.Ser36Gly"
}
],
"clinvar_disease": " due to defective mitochondrial peroxisomal fission 1, lethal,Encephalopathy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}