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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: 2-62990794-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=62990794&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 62990794,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015252.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"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.2687G>T",
"hgvs_p": "p.Ser896Ile",
"transcript": "NM_001142616.3",
"protein_id": "NP_001136088.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3322,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": "ENST00000431489.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142616.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2687G>T",
"hgvs_p": "p.Ser896Ile",
"transcript": "ENST00000431489.6",
"protein_id": "ENSP00000403783.1",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3322,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": "NM_001142616.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431489.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2900G>T",
"hgvs_p": "p.Ser967Ile",
"transcript": "ENST00000263991.9",
"protein_id": "ENSP00000263991.5",
"transcript_support_level": 1,
"aa_start": 967,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3382,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263991.9"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2795G>T",
"hgvs_p": "p.Ser932Ile",
"transcript": "ENST00000405289.5",
"protein_id": "ENSP00000385524.1",
"transcript_support_level": 1,
"aa_start": 932,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2795,
"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.303G>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": "S",
"aa_alt": "I",
"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.2900G>T",
"hgvs_p": "p.Ser967Ile",
"transcript": "NM_001354212.1",
"protein_id": "NP_001341141.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3212,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354212.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2900G>T",
"hgvs_p": "p.Ser967Ile",
"transcript": "NM_001354213.1",
"protein_id": "NP_001341142.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354213.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2900G>T",
"hgvs_p": "p.Ser967Ile",
"transcript": "NM_001354214.1",
"protein_id": "NP_001341143.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354214.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2900G>T",
"hgvs_p": "p.Ser967Ile",
"transcript": "NM_015252.5",
"protein_id": "NP_056067.2",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3535,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015252.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2900G>T",
"hgvs_p": "p.Ser967Ile",
"transcript": "ENST00000861125.1",
"protein_id": "ENSP00000531184.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3225,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861125.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2897G>T",
"hgvs_p": "p.Ser966Ile",
"transcript": "NM_001354215.1",
"protein_id": "NP_001341144.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3277,
"cdna_end": null,
"cdna_length": 5060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354215.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2897G>T",
"hgvs_p": "p.Ser966Ile",
"transcript": "NM_001354216.2",
"protein_id": "NP_001341145.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3634,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354216.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2795G>T",
"hgvs_p": "p.Ser932Ile",
"transcript": "NM_001142614.2",
"protein_id": "NP_001136086.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142614.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2792G>T",
"hgvs_p": "p.Ser931Ile",
"transcript": "NM_001354217.1",
"protein_id": "NP_001341146.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354217.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2687G>T",
"hgvs_p": "p.Ser896Ile",
"transcript": "NM_001142615.3",
"protein_id": "NP_001136087.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3188,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142615.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2687G>T",
"hgvs_p": "p.Ser896Ile",
"transcript": "NM_001354218.1",
"protein_id": "NP_001341147.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354218.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2687G>T",
"hgvs_p": "p.Ser896Ile",
"transcript": "ENST00000405015.7",
"protein_id": "ENSP00000384143.3",
"transcript_support_level": 2,
"aa_start": 896,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405015.7"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2687G>T",
"hgvs_p": "p.Ser896Ile",
"transcript": "ENST00000861116.1",
"protein_id": "ENSP00000531175.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861116.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2687G>T",
"hgvs_p": "p.Ser896Ile",
"transcript": "ENST00000861124.1",
"protein_id": "ENSP00000531183.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2687,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861124.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2684G>T",
"hgvs_p": "p.Ser895Ile",
"transcript": "NM_001354219.2",
"protein_id": "NP_001341148.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2684,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354219.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2684G>T",
"hgvs_p": "p.Ser895Ile",
"transcript": "NM_001354220.1",
"protein_id": "NP_001341149.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2684,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3050,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354220.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"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.2684G>T",
"hgvs_p": "p.Ser895Ile",
"transcript": "ENST00000861118.1",
"protein_id": "ENSP00000531177.1",
"transcript_support_level": null,
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}
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}