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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: 19-41432384-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41432384&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41432384,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001167868.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.377G>A",
"hgvs_p": "p.Arg126Gln",
"transcript": "ENST00000438807.7",
"protein_id": "ENSP00000397413.3",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 158,
"cds_start": 377,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438807.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.621G>A",
"hgvs_p": "p.Ser207Ser",
"transcript": "NM_018035.3",
"protein_id": "NP_060505.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 257,
"cds_start": 621,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221943.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018035.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.621G>A",
"hgvs_p": "p.Ser207Ser",
"transcript": "ENST00000221943.14",
"protein_id": "ENSP00000221943.8",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 257,
"cds_start": 621,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018035.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221943.14"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"transcript": "NM_001167868.2",
"protein_id": "NP_001161340.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 191,
"cds_start": 476,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167868.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"transcript": "ENST00000301183.15",
"protein_id": "ENSP00000301183.9",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 191,
"cds_start": 476,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301183.15"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.458G>A",
"hgvs_p": "p.Arg153Gln",
"transcript": "NM_001167869.2",
"protein_id": "NP_001161341.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 185,
"cds_start": 458,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167869.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.458G>A",
"hgvs_p": "p.Arg153Gln",
"transcript": "ENST00000589970.5",
"protein_id": "ENSP00000466485.1",
"transcript_support_level": 2,
"aa_start": 153,
"aa_end": null,
"aa_length": 185,
"cds_start": 458,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589970.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Gly141Arg",
"transcript": "NM_001320838.2",
"protein_id": "NP_001307767.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 170,
"cds_start": 421,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320838.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132Gln",
"transcript": "NM_001320841.2",
"protein_id": "NP_001307770.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 164,
"cds_start": 395,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320841.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.377G>A",
"hgvs_p": "p.Arg126Gln",
"transcript": "NM_001167870.2",
"protein_id": "NP_001161342.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 158,
"cds_start": 377,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167870.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.639G>A",
"hgvs_p": "p.Ser213Ser",
"transcript": "NM_001167867.2",
"protein_id": "NP_001161339.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 263,
"cds_start": 639,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167867.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.639G>A",
"hgvs_p": "p.Ser213Ser",
"transcript": "ENST00000417807.7",
"protein_id": "ENSP00000403910.2",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 263,
"cds_start": 639,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417807.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Ser186Ser",
"transcript": "NM_001320840.2",
"protein_id": "NP_001307769.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 236,
"cds_start": 558,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320840.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.540G>A",
"hgvs_p": "p.Ser180Ser",
"transcript": "NM_001167871.2",
"protein_id": "NP_001161343.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 230,
"cds_start": 540,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167871.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.540G>A",
"hgvs_p": "p.Ser180Ser",
"transcript": "ENST00000592922.6",
"protein_id": "ENSP00000467205.1",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 230,
"cds_start": 540,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592922.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Ser124Ser",
"transcript": "ENST00000594660.5",
"protein_id": "ENSP00000470684.1",
"transcript_support_level": 3,
"aa_start": 124,
"aa_end": null,
"aa_length": 149,
"cds_start": 372,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594660.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.*884G>A",
"hgvs_p": null,
"transcript": "NM_001320839.2",
"protein_id": "NP_001307768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320839.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "c.*884G>A",
"hgvs_p": null,
"transcript": "NM_001320844.2",
"protein_id": "NP_001307773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320844.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.1252G>A",
"hgvs_p": null,
"transcript": "ENST00000589503.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589503.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.617G>A",
"hgvs_p": null,
"transcript": "NR_030765.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_030765.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.485G>A",
"hgvs_p": null,
"transcript": "NR_135476.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135476.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.631G>A",
"hgvs_p": null,
"transcript": "NR_135477.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135477.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"hgvs_c": "n.648G>A",
"hgvs_p": null,
"transcript": "NR_135478.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135478.2"
}
],
"gene_symbol": "DMAC2",
"gene_hgnc_id": 25496,
"dbsnp": "rs143331885",
"frequency_reference_population": 0.00022058669,
"hom_count_reference_population": 1,
"allele_count_reference_population": 356,
"gnomad_exomes_af": 0.000212773,
"gnomad_genomes_af": 0.000295609,
"gnomad_exomes_ac": 311,
"gnomad_genomes_ac": 45,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010933101177215576,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.616,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001167868.2",
"gene_symbol": "DMAC2",
"hgnc_id": 25496,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}