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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: 4-145540037-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=145540037&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 145540037,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005900.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "NM_005900.3",
"protein_id": "NP_005891.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302085.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005900.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000302085.9",
"protein_id": "ENSP00000305769.4",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005900.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302085.9"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000394092.6",
"protein_id": "ENSP00000377652.2",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394092.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "NM_001003688.1",
"protein_id": "NP_001003688.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003688.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "NM_001354811.1",
"protein_id": "NP_001341740.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354811.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "NM_001354812.1",
"protein_id": "NP_001341741.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354812.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "NM_001354813.1",
"protein_id": "NP_001341742.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354813.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "NM_001354814.1",
"protein_id": "NP_001341743.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354814.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "NM_001354816.1",
"protein_id": "NP_001341745.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354816.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "NM_001354817.1",
"protein_id": "NP_001341746.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354817.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000515385.1",
"protein_id": "ENSP00000426568.1",
"transcript_support_level": 2,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515385.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000885680.1",
"protein_id": "ENSP00000555739.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885680.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000885681.1",
"protein_id": "ENSP00000555740.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885681.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000885682.1",
"protein_id": "ENSP00000555741.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885682.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000885686.1",
"protein_id": "ENSP00000555745.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885686.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000885687.1",
"protein_id": "ENSP00000555746.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885687.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000885688.1",
"protein_id": "ENSP00000555747.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885688.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000885689.1",
"protein_id": "ENSP00000555748.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885689.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000885690.1",
"protein_id": "ENSP00000555749.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885690.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000885691.1",
"protein_id": "ENSP00000555750.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885691.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000919687.1",
"protein_id": "ENSP00000589746.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919687.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Pro212Ser",
"transcript": "ENST00000957200.1",
"protein_id": "ENSP00000627259.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 634,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957200.1"
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