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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: 9-128218312-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128218312&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128218312,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001374269.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "NM_004408.4",
"protein_id": "NP_004399.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372923.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004408.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000372923.8",
"protein_id": "ENSP00000362014.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004408.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372923.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000486160.3",
"protein_id": "ENSP00000420045.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486160.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000634267.2",
"protein_id": "ENSP00000489096.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": null,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634267.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000341179.11",
"protein_id": "ENSP00000345680.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341179.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.36+8C>T",
"hgvs_p": null,
"transcript": "ENST00000441149.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000441149.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "NM_001374269.1",
"protein_id": "NP_001361198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": null,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000706053.1",
"protein_id": "ENSP00000516205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": null,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706053.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "NM_001288739.2",
"protein_id": "NP_001275668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288739.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000628346.2",
"protein_id": "ENSP00000486525.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628346.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "NM_001005336.3",
"protein_id": "NP_001005336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005336.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "NM_001288737.2",
"protein_id": "NP_001275666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288737.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "NM_001288738.2",
"protein_id": "NP_001275667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288738.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000393594.7",
"protein_id": "ENSP00000377219.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393594.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000475805.5",
"protein_id": "ENSP00000419225.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475805.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000627543.2",
"protein_id": "ENSP00000487310.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": null,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627543.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000627061.2",
"protein_id": "ENSP00000486437.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": null,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627061.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000965157.1",
"protein_id": "ENSP00000635216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": null,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.235+8C>T",
"hgvs_p": null,
"transcript": "ENST00000636280.1",
"protein_id": "ENSP00000490285.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.61+8C>T",
"hgvs_p": null,
"transcript": "ENST00000637999.1",
"protein_id": "ENSP00000489985.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637999.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.*31C>T",
"hgvs_p": null,
"transcript": "ENST00000635766.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000635766.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.*13C>T",
"hgvs_p": null,
"transcript": "ENST00000636103.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000636103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.*16C>T",
"hgvs_p": null,
"transcript": "ENST00000636874.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000636874.1"
}
],
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"dbsnp": "rs370555560",
"frequency_reference_population": 0.00015056807,
"hom_count_reference_population": 0,
"allele_count_reference_population": 243,
"gnomad_exomes_af": 0.000145719,
"gnomad_genomes_af": 0.000197143,
"gnomad_exomes_ac": 213,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.006000000052154064,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.764,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": 0.000111683636750702,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_001374269.1",
"gene_symbol": "DNM1",
"hgnc_id": 2972,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.235+8C>T",
"hgvs_p": null
}
],
"clinvar_disease": " 31A,DNM1-related disorder,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Developmental and epileptic encephalopathy, 31A|DNM1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}