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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: 2-62990744-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=62990744&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 62990744,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015252.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2637G>T",
"hgvs_p": "p.Lys879Asn",
"transcript": "NM_001142616.3",
"protein_id": "NP_001136088.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2637,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3272,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": "ENST00000431489.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142616.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2637G>T",
"hgvs_p": "p.Lys879Asn",
"transcript": "ENST00000431489.6",
"protein_id": "ENSP00000403783.1",
"transcript_support_level": 1,
"aa_start": 879,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2637,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3272,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": "NM_001142616.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431489.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2850G>T",
"hgvs_p": "p.Lys950Asn",
"transcript": "ENST00000263991.9",
"protein_id": "ENSP00000263991.5",
"transcript_support_level": 1,
"aa_start": 950,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3332,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263991.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2745G>T",
"hgvs_p": "p.Lys915Asn",
"transcript": "ENST00000405289.5",
"protein_id": "ENSP00000385524.1",
"transcript_support_level": 1,
"aa_start": 915,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2745,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405289.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "n.253G>T",
"hgvs_p": null,
"transcript": "ENST00000496857.5",
"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": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496857.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2850G>T",
"hgvs_p": "p.Lys950Asn",
"transcript": "NM_001354212.1",
"protein_id": "NP_001341141.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354212.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2850G>T",
"hgvs_p": "p.Lys950Asn",
"transcript": "NM_001354213.1",
"protein_id": "NP_001341142.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3230,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354213.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2850G>T",
"hgvs_p": "p.Lys950Asn",
"transcript": "NM_001354214.1",
"protein_id": "NP_001341143.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354214.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2850G>T",
"hgvs_p": "p.Lys950Asn",
"transcript": "NM_015252.5",
"protein_id": "NP_056067.2",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3485,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015252.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2850G>T",
"hgvs_p": "p.Lys950Asn",
"transcript": "ENST00000861125.1",
"protein_id": "ENSP00000531184.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861125.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2847G>T",
"hgvs_p": "p.Lys949Asn",
"transcript": "NM_001354215.1",
"protein_id": "NP_001341144.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2847,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3227,
"cdna_end": null,
"cdna_length": 5060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354215.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2847G>T",
"hgvs_p": "p.Lys949Asn",
"transcript": "NM_001354216.2",
"protein_id": "NP_001341145.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2847,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3584,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354216.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2745G>T",
"hgvs_p": "p.Lys915Asn",
"transcript": "NM_001142614.2",
"protein_id": "NP_001136086.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2745,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3125,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142614.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2742G>T",
"hgvs_p": "p.Lys914Asn",
"transcript": "NM_001354217.1",
"protein_id": "NP_001341146.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2742,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3037,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354217.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2637G>T",
"hgvs_p": "p.Lys879Asn",
"transcript": "NM_001142615.3",
"protein_id": "NP_001136087.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2637,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3138,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142615.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2637G>T",
"hgvs_p": "p.Lys879Asn",
"transcript": "NM_001354218.1",
"protein_id": "NP_001341147.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2637,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3017,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354218.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2637G>T",
"hgvs_p": "p.Lys879Asn",
"transcript": "ENST00000405015.7",
"protein_id": "ENSP00000384143.3",
"transcript_support_level": 2,
"aa_start": 879,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2637,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405015.7"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2637G>T",
"hgvs_p": "p.Lys879Asn",
"transcript": "ENST00000861116.1",
"protein_id": "ENSP00000531175.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2637,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3210,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861116.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2637G>T",
"hgvs_p": "p.Lys879Asn",
"transcript": "ENST00000861124.1",
"protein_id": "ENSP00000531183.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2637,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861124.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2634G>T",
"hgvs_p": "p.Lys878Asn",
"transcript": "NM_001354219.2",
"protein_id": "NP_001341148.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2634,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3269,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354219.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2634G>T",
"hgvs_p": "p.Lys878Asn",
"transcript": "NM_001354220.1",
"protein_id": "NP_001341149.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2634,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354220.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.2634G>T",
"hgvs_p": "p.Lys878Asn",
"transcript": "ENST00000861118.1",
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],
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
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"gnomad_mito_homoplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015252.5",
"gene_symbol": "EHBP1",
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"effects": [
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],
"inheritance_mode": "AD",
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},
{
"score": -2,
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000650490.1",
"gene_symbol": "EHBP1-AS1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}