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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: 2-47161744-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47161744&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47161744,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001305624.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.400G>C",
"hgvs_p": "p.Asp134His",
"transcript": "NM_001743.6",
"protein_id": "NP_001734.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 149,
"cds_start": 400,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272298.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001743.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.400G>C",
"hgvs_p": "p.Asp134His",
"transcript": "ENST00000272298.12",
"protein_id": "ENSP00000272298.7",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 149,
"cds_start": 400,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001743.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272298.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "n.3840G>C",
"hgvs_p": null,
"transcript": "ENST00000460218.5",
"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": "ENST00000460218.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273269",
"gene_hgnc_id": null,
"hgvs_c": "n.101-8728G>C",
"hgvs_p": null,
"transcript": "ENST00000422269.1",
"protein_id": "ENSP00000476793.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000422269.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Asp182His",
"transcript": "NM_001305624.1",
"protein_id": "NP_001292553.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 197,
"cds_start": 544,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305624.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.541G>C",
"hgvs_p": "p.Asp181His",
"transcript": "ENST00000409563.5",
"protein_id": "ENSP00000387065.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 196,
"cds_start": 541,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409563.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Asp98His",
"transcript": "NM_001305625.2",
"protein_id": "NP_001292554.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 113,
"cds_start": 292,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305625.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Asp98His",
"transcript": "NM_001305626.1",
"protein_id": "NP_001292555.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 113,
"cds_start": 292,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305626.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Asp98His",
"transcript": "ENST00000456319.6",
"protein_id": "ENSP00000411440.2",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 113,
"cds_start": 292,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456319.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Asp98His",
"transcript": "ENST00000655450.1",
"protein_id": "ENSP00000499266.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 113,
"cds_start": 292,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000655450.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Asp98His",
"transcript": "ENST00000655728.1",
"protein_id": "ENSP00000499656.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 113,
"cds_start": 292,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000655728.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Asp98His",
"transcript": "ENST00000656538.1",
"protein_id": "ENSP00000499357.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 113,
"cds_start": 292,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656538.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Asp98His",
"transcript": "ENST00000668667.1",
"protein_id": "ENSP00000499706.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 113,
"cds_start": 292,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668667.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Asp98His",
"transcript": "ENST00000946887.1",
"protein_id": "ENSP00000616946.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 113,
"cds_start": 292,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946887.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.289G>C",
"hgvs_p": "p.Asp97His",
"transcript": "ENST00000946888.1",
"protein_id": "ENSP00000616947.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 112,
"cds_start": 289,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946888.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Asp98His",
"transcript": "ENST00000484408.5",
"protein_id": "ENSP00000499468.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 103,
"cds_start": 292,
"cds_end": null,
"cds_length": 313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484408.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "c.121G>C",
"hgvs_p": "p.Asp41His",
"transcript": "ENST00000921950.1",
"protein_id": "ENSP00000592009.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 56,
"cds_start": 121,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921950.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "n.*95G>C",
"hgvs_p": null,
"transcript": "ENST00000432899.5",
"protein_id": "ENSP00000406112.1",
"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": "ENST00000432899.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "n.1667G>C",
"hgvs_p": null,
"transcript": "ENST00000482532.5",
"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": "ENST00000482532.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "n.*384G>C",
"hgvs_p": null,
"transcript": "ENST00000652974.1",
"protein_id": "ENSP00000499369.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000652974.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "n.1305G>C",
"hgvs_p": null,
"transcript": "ENST00000670593.1",
"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": "ENST00000670593.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "n.*95G>C",
"hgvs_p": null,
"transcript": "ENST00000432899.5",
"protein_id": "ENSP00000406112.1",
"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": "ENST00000432899.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"hgvs_c": "n.*384G>C",
"hgvs_p": null,
"transcript": "ENST00000652974.1",
"protein_id": "ENSP00000499369.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000652974.1"
}
],
"gene_symbol": "CALM2",
"gene_hgnc_id": 1445,
"dbsnp": "rs398124650",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9999118447303772,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "CardioboostArm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.879,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.873,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001305624.1",
"gene_symbol": "CALM2",
"hgnc_id": 1445,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Asp182His"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000422269.1",
"gene_symbol": "ENSG00000273269",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.101-8728G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Long QT syndrome 1,Long QT syndrome 15",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome 15|Long QT syndrome 1",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}